Neudle.com: mental retardation familial

Differential
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abducens nerve paralysis

abscess, intracerebral

abscess, perivalvular

achilles tendon, enlarged

acid maltase deficiency

acoustic nerve

acquired immunodeficiency syndrome

acquired immunodeficiency syndrome myelopathy

acrocyanosis

acromicria

activities of daily living

activities of daily living scale

acute disseminated encephalomyelitis

adrenoleukodystrophy, adult onset

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

adult polyglucosan body disease

adult-onset leukodystrophy, with neuroaxonal spheroids

advances in neurology

adverse drug reaction

affect, inappropriate

aggression

agitation

Aicardi-Goutieres syndrome

alcohol, blood level of

alcohol, neurologic complications with

alcoholic blackout

alcoholic coma

alcoholic dementia

alcoholic polyneuropathy

alcoholic withdrawal states, DT's, convulsions, etc.

altered states of consciousness

alternating hemiplegia

alternating hemiplegia of childhood

alternating rapid movement

alternating rapid movement, impaired

alternative medicine

alveolar hypoventilation

Alzheimer's disease

Alzheimer's disease, conjugal

Alzheimer's disease, diagnosis of

Alzheimer's disease, early onset

Alzheimer's disease, familial

Alzheimer's disease, familial, late onset

Alzheimer's disease, pathogenesis

Alzheimer's disease, preclinical

Alzheimer's disease, risk factors in

Alzheimer's disease, treatment of

amyloid angiopathy, cerebral

amyloid angiopathy, cerebral, Dutch type

amyloid angiopathy, hereditary cystatin C

amyloidosis, oculoleptomeningeal, familial

amyotrophic chorea-acanthocytosis

amyotrophic lateral sclerosis

amyotrophic lateral sclerosis, childhood

amyotrophic lateral sclerosis, diagnosis of

amyotrophic lateral sclerosis, differential diagnosis

amyotrophic lateral sclerosis, familial

amyotrophic lateral sclerosis, Parkinson-dementia-complex

amyotrophic lateral sclerosis, post-encephalitic

amyotrophic lateral sclerosis, treatment of

anatomy of

anemia

anemia, hemolytic

anemia, megaloblastic

anesthesia, general

aneuploidy

aneurysm

aneurysm, intracranial

aneurysm, intracranial, familial

Angelman syndrome

angiofibroma, facial

angiography, cerebral

anterior horn cell disease

anticholinergic drugs

anticholinesterase

anticonvulsants, selection of

antimetabolite

antiphospholipid antibodies

anxiety

aortic valve, bicuspid

aortic valve, lesion of

aphasia

aphasia, progressive

aphasia, progressive, primary

apraxia of eye movements

apraxia, constructional

areflexia

arteriopathy

arteriovenous malformation

arthralgia

arthropathy

arthropathy, neuropathic

aspartate aminotransferase

asterixis, unilateral

astrocytoma

asymptomatic

ataxia

ataxia telangiectasia

atherosclerosis, premature

attention deficit disorder with hyperactivity

attention span

atypical

auditory and vestibular pathways

auditory evoked brainstem potentials

autism

autism, screening for

autistic behavior

autonomic dysfunction

autonomic neuropathy

autonomic neuropathy, idiopathic

autosomal dominant leukodystrophy

bacterial endocarditis, neurologic manifestations of

basal cell carcinoma

basal ganglia

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, infarction

basal ganglia, lesion of

basal ganglia, lesion, bilateral

Bassen-Kornzweig syndrome

behavior

behavior modification

behavior, combative

behavioral disorder

benign essential tremor

bent spine syndrome

bilateral periventricular nodular heterotopia

biologic markers

biotin

biotin deficiency

biotin deficiency, juvenile form

biotinidase deficiency

biotin-responsive basal ganglia disease

blood dyscrasias, neurologic findings with

blood transfusion

body odor

bone density

bone density, increased

bone marrow transplantation

bone pain

bovine spongiform encephalopathy

burst suppression pattern, electroencephalogram

calcification, intracranial

camptocormia

Canavan's disease

cane

carbonic anhydrase II deficiency

carcinoembryonic antigen

carnitine deficiency myopathy

carotid artery disease

carotid artery occlusion, bilateral

CAT scan

CAT scan, abdomen

CAT scan, abnormal

CAT scan, contrast enhanced

CAT scan, disappearing lesion on

CAT scan, emission

CAT scan, emission, abnormal

CAT scan, false negative

CAT scan, isodense lesion with acute hemorrhage

cataracts, congenital

catecholamine

caudate nucleus, atrophy

caudate nucleus, lesion of

central nervous system, infection of

central pontine myelinolysis

cerebellar ataxia, children

cerebellar ataxia, hereditary

cerebellar atrophy, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar hypoplasia

cerebellar lesion

cerebellar plaques, amyloid

cerebellar vermis

cerebellum, disease of

cerebellum, neoplasms of

cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy

cerebral autosomal recessive arteriopathy with subcortical infarction and leukoencephalopathy

cerebral cortex

cerebral cortical atrophy

cerebral edema

cerebral embolism

cerebral glucose metabolism

cerebral infarction

cerebral infarction, small, deep

cerebral infarction, subcortical

cerebral ischemia

cerebral palsy

cerebral vasculature

cerebral vasculature, calcification

cerebral venous infarction

cerebral venous thrombosis

cerebro hepato renal syndrome

cerebrospinal fluid

cerebrospinal fluid, abnormal

cerebrospinal fluid, amonia

cerebrospinal fluid, biochemical markers of CNS disease

cerebrospinal fluid, culture of, viral

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, glutamine

cerebrospinal fluid, glycine

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, pressure low

cerebrospinal fluid, protein of

cerebrospinal fluid, proteincytologic dissociation

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, cardiac disease causing

cerebrovascular accident, familial occurrence

cerebrovascular accident, infancy and childhood

cerebrovascular accident, mimics

cerebrovascular accident, multiple

cerebrovascular accident, non atherosclerotic cause of

cerebrovascular accident, nonarterial territory

cerebrovascular accident, recurrent

cerebrovascular accident, young adult

cerebrovascular disease

ceruloplasmin, serum

channelopathy

Charcot-Marie-Tooth

chemotherapy, CNS treatment and complications with

chenodeoxycholic acid

cherry red spot

chewing movements

chilbran skin lesions

choroid plexus, abnormality of

chromosomal abnormality

chronic progressive external ophthalmoplegia

cigarette smoking

cingulate island sign

cirrhosis

cirrhosis, causes of childhood

claustrum

Clinical Pathologic Conference(C.P.C.)

clonus

clubfoot as related to neurologic disease

coat-hanger pain

cobalamin C deficiency

compression neuropathy

compulsivity

confabulation

confusion

congenital deformities

congenital heart disease

congenital heart disease, CNS complications with

congenital malformation

congenital myopathy

congestive heart failure

copper metabolism, abnormal

cornea, abnormal

cornea, opacification in infancy-causes of

corpus callosum, atrophy of

corpus callosum, hypoplastic

corpus callosum, lesion of

corpus callosum, thinning

cortical blindness

cortical blindness, transient

cortical infarction

cost effectiveness

cranial nerve palsies

cranial neuropathy, multiple

creatine phosphokinase(CPK)elevated

Creutzfeldt-Jakob disease, genetic

cry, abnormal

cry, weak

crying, pathologic

cryopyrin-associated periodic syndrome

cryptorchidism

Cuba

cultured skin fibroblasts

cytomegalovirus infection

degenerative diseases of CNS

delay in diagnosis

delusion

dementia

dementia, age at onset

dementia, cerebrovascular disease causing

dementia, childhood

dementia, diagnostic evaluation of

dementia, differential diagnosis of

dementia, familial

dementia, frontal lobe type

dementia, frontotemporal

dementia, presenile

dementia, rapidly progressive

dementia, screening for

dementia, subcortical

dementia, thalamic

dementia, transmissible

demyelinating disease

dental procedure, neurologic complications with

dentate nuclei

dentate nuclei, lesion of

dentatorubral-pallidoluysian atrophy

depression

dermatitis

developmental abnormality of brain

developmental disability

developmental evaluation

developmental milestones, loss of

developmental retardation

differential diagnosis

difficulty climbing stairs

digits, abnormal

diplopia

disability rating scale, neurological

disability, neurological

disease modifying agents

disinhibition-dementia-parkinsonism-amyotrophic complex

disorientation

distal muscle atrophy

dopa responsive dystonia

drug induced neurologic disorders

dyssynergia cerebellaris myoclonica

dystonia

dystonia musculorum deformens

dystonia, children

dystonia, etiology of

dystonia, painful

dystonia, treatment of

dystonic reaction, acute

ear, abnormal

ears of the Lynx MR sign

eating disorder

echocardiogram

echocardiogram, transesophageal, false negative

echocardiogram, transthoracic

echocardiogram, transthoracic, false negative

echolalia

eczema

edema, pedal

electrocardiogram, abnormal

electroconvulsive therapy

electroencephalogram

electroencephalogram, abnormalities of

electroencephalogram, pediatric patients

electroencephalogram, periodic complexes

electroencephalogram, video monitoring with

electromyogram

electron microscopy

electronystagmography

electroretinograph

Emery-Dreifuss muscular dystrophy

encephalopathy, acute

encephalopathy, acute necrotizing

encephalopathy, acute necrotizing of childhood

encephalopathy, anoxic

encephalopathy, metabolic

encephalopathy, neonatal

encephalopathy, progressive

endocarditis

endocarditis, acute bacterial

enophthalmous

entrapment neuropathy

enzyme, defect

epidemic

epidemiology of neurology

epileptic encephalopathy

episodic disorders

episodic neurologic deficits

epistaxis

epistaxis, recurrent

epsilon sarcoglycan gene

executive dysfunction

exercise intolerance

exome sequencing

eye movement, disorders of

facial appearance, abnormal

facial expression abnormality

facial hypoplasia

facial nerve palsy

facial nerve palsy, bilateral

familial hemiplegic migraine

Farber's disease

FARS2 deficiency

fasciculation

fatal familial insomnia

fatigue

fatty acid dehydrogenase deficiency

fatty acid, elevated plasma content

fetal alcohol syndrome

fine motor function, impaired

finger nose finger test

flow study, carotid artery

fluency

flunarizine

fluorescene in situ hybridization

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

fragile-X syndrome, carrier

frataxin

Friedreich's ataxia

frontal bossing

frontal lobe, atrophy

frontal lobe, behavior with disease of

frontal lobe, lesion of

frontal lobe, pathologic signs of

frontotemporal dementia, behavioral variant

fucosidosis

fundus, abnormality of

gamma amino butyric acid

gangliosidosis GM2

gargoylism

Gaucher's disease

Gaucher's disease, adult onset

gaze palsy

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

geniculate body, lateral

Gerstmann-Straussler-Scheinker disease

giant axonal neuropathy

Gilles de la Tourette syndrome

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

GLUT1

GLUT1 deficiency syndrome

glycogen storage disease

glycoprotein

Gorlin-Goltz syndrome

gout

granular osmiphilic material

grasp reflex

grimacing

growth hormone

growth hormone deficiency

growth retardation

guanidinoacetate methyltransferase deficiency

gynecomastia

gyrus, abnormal

Hallervorden Spatz disease

Hallervorden Spatz disease, late onset

Hallgren's syndrome

hallucination

hallucination, auditory

hallucination, visual

hearing loss, bilateral

hearing problems in children

hemangioma, leptomeningeal

hemangioma, skin

hemianopia

hemianopia, homonymous

hemihypertrophy, congenital

hemiparesis

hemiplegia

hemochromatosis

hemochromatosis, primary

hemoglobin abnormality, neurologic complications of

hemophagocytic lymphohistiocytosis

hemophagocytic lymphohistiocytosis, cerebromeningeal

hemophagocytosis

hemorrhagic diathesis

hepatic encephalopathy

hepatic encephalopathy, treatment of

hepatic failure

hepatitis

hepatolenticular degeneration(Wilson's disease)

hepatolenticular degeneration(Wilson's disease), presymptomatic

hepatolenticular degeneration(Wilson's disease), screening for

hepatolenticular degeneration, non-Wilsonian

hepatomegaly

hepatosplenomegaly

heralding manifestation

hereditary hemorrhagic telangiectasia(HHT)

herpes simplex encephalitis

herpes simplex encephalitis, differential diagnosis of

heterotopia

hexosaminidase-A

hexosaminidase-A and B

human immunodeficiency virus type 1

Hunter's syndrome

Huntington's chorea

Huntington's chorea, genetic counselling

Huntington's chorea, late onset

Huntington's chorea, misdiagnosis of

Huntington's disease, children

Hurler's syndrome

hydrocephalus

hydrocephalus, communicating

hydrocephalus, congenital

hydrocephalus, exvacuo

hydrocephalus, fetal

hydrocephalus, intrauterine

hydrocephalus, viral induced

hyperactivity

hyperglycinemia

hyperglycinemia, nonketotic

hyperhidrosis

hyperhomocysteinemia

hyperostosis

hyperostosis corticalis generalisata familiaris

hyperphagia

hyperpigmentation of skin

hyperpyrexia, CNS disorder causing

hypertrophic cardiomyopathy

hypertrophic intracranial pachymeningitis

hypopigmentation of skin

hyporeflexia

hyposmia

hypotension, neurologic causes of

hypotension, systemic

hypothalamus, disturbance of

hypothermia

hypothermia, causes of

hypothyroidism

hypotonia

hypotonia, infants

hypoxic encephalopathy

iatrogenic neurologic disorders

inappropriate antidiuretic(A.D.H.)hormone, CNS involvement with

inappropriate behavior

inattention

inborn errors of metabolism

inborn errors of metabolism, screening

inclusion bodies

inclusion bodies, eosinophilic cytoplasmic

inclusion bodies, eosinophilic intranuclear

inclusion bodies, intracytopasmic

inclusion bodies, intranuclear

incontinence, fecal

incontinentia pigmenti

incoordination

infantile bilateral striatal necrosis

inflexibility, mental

intellectual deficit, treatable causes of

intellectual deterioration

intelligence quotient

interferon alpha

internet

intracerebral hemorrhage

intracerebral hemorrhage, familial

intracerebral hemorrhage, lobar

intracerebral hemorrhage, recurrent

intracerebral hemorrhage, young adult

intracranial pressure, increased

intrauterine

intrauterine infection

intrinsic hand muscles, wasting of

Jakob-Creutzfeldt disease

Jakob-Creutzfeldt disease, cerebellar variant

Jakob-Creutzfeldt disease, medical precaution with

Jakob-Creutzfeldt disease, variant

Kayser-Fleischer ring

KCNQ2 encephalopathy

Kearns-Sayre syndrome

Korsakoff's psychosis

Krabbe's disease

kuru

kyphoscoliosis, neurologic causes of

laminar necrosis, cortical

language delay

laughing

laughing, pathologic

Laurence-Moon-Bardet-Biedl syndrome

L-dopa

learning disability

learning disability, in children

Leber's congenital amaurosis

Leber's hereditary optic neuropathy

leg spasms

leg spasms, painful

leg weakness, bilateral

Leigh's disease

Leigh's disease, adult variety

lens, dislocation of

lens, ectopic

lenticular nucleus, lesion of, bilateral

Lesch-Nyhan syndrome

lethargy

leukemia

leukemia, neurologic findings assoc.with

leukodystrophy

leukodystrophy, pigmented orthochromatic

leukoencephalopathy

leukoencephalopathy, differential diagnosis

leukoencephalopathy, hereditary diffuse

leukopenia

level of consciousness, decreased

Lewy body

Lewy body disease, diffuse

lipid storage disorder of CNS

lipomembranous polycystic osteodysplasia

liver function enzymes

liver transplantation

lymphoma involving CNS

lysosomal storage disease

magnetic susceptibility

magnetoencephalography

malaise

malformation, CNS, congenital

malformation, vascular

malformation, vascular, cerebral

mania

manic-depressive

maple syrup urine disease

marche a petits pas

Marinesco-Sjogren syndrome

masked facies

medulloblastoma

melanomatosis, primary malignant

MELAS syndrome

memory, defect of recent

memory, impairment of

meningeal enhancement

meningismus

meningitis, aseptic

meningitis, carcinomatous

meningitis, CSF cell count-normal

meningoencephalopathy

mental retardation

mental retardation, etiology of

mental retardation, familial

mental status, abnormal

metabolic acidosis

metabolic disorder, primary

metabolic disorder, primary-screening tests

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

metachromatic leukodystrophy, juvenile

methotrexate

methylhydrazine derivatives

methylmalonic acidemia

methylmalonic aciduria

metronidazole

microangiopathy, brain

microcephaly

micrognathia

micrographia

microhemorrhage, intracerebral

micropolygyria

microspherophakia

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

miglustat

migraine

migraine with aura

migraine, confusional state and delirium with

migraine, hemiplegic

migraine, mental disorder associated with

migratory lesion pattern

mild cognitive impairment

Miller-Dieker syndrome

mimics

Minamata disease

Mini Mental Status Examination

misdiagnosis

mitochondrial disease

mitochondrial disease, pathogenesis

mitochondrial encephalomyopathy

mitral valve prolapse

molecular genetics

molybdenum cofactor deficiency

mongolism

monoamine oxidase inhibitors

movement disorder, extrapyramidal

movement disorder, hyperkinetic

MRI, CAT scan compared to

MRI, complications with

MRI, contrast enhanced

MRI, diffusion tensor

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, eye of tiger sign

MRI, paramagnetic effect

MRI, punctate pattern

MRI, serial

MRI, spinal cord

MRI, susceptibility weighted

MRI, T1 weighted high signal foci

MRS

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, familial

multiple sclerosis, misdiagnosis

multiple system atrophy

muscle atrophy, progressive

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, cardiovascular changes with

muscular dystrophy, central nervous system abnormality

muscular dystrophy, congenital

muscular dystrophy, congenital, Fukuyama type

muscular dystrophy, differential diagnosis of

mutism

myasthenia gravis

myasthenia gravis, differential diagnosis

myasthenia gravis, misdiagnosis of

myelinolysis, extrapontine

myelomalacia

myeloneuropathy

myelopathy

myelopathy, chronic progressive

myopathy, mitochondrial

myopathy, necrotizing

neoplasm, intracranial

neoplasm, primary intracerebral

neoplasm, primary of CNS

nerve biopsy

nerve conduction studies

neuritis

neuroaxonal dystrophy

neuroaxonal dystrophy, infantile

neuroaxonal dystrophy, juvenile

neuroaxonal leukodystrophy

neurocutaneous disease

neuroendocrinology

neurofibrillary degeneration

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic evaluation

neurologic examination

neurologic examination, focal

neurologic signs

neurologic testing

neuromyotonia

neuronal ceroid-lipofuscinosis

neuronal intranuclear inclusion disease

neuronal migration disorder

neuropathology, brain

neuropathy

neuropathy, demyelinating

neuropathy, hereditary peripheral

neuropathy, peripheral

neuropathy, sensory

neuropathy, sensory, hereditary

nevoid basal cell carcinoma syndrome

nevus

newborn, evaluation of

next-generation sequencing

obsessive-compulsive disorder

occipital lobe

occipital lobe, lesion of

ocular dysmetria

ocular motility, disorders of

ocular myopathy

old age, neurology of

Ondine's curse

opened mouth

ophthalmoplegia

ophthalmoplegia, progressive external

opisthotonus

optic ataxia

optic atrophy

optic atrophy, bilateral

optic foramina

optic foramina, abnormal

optic nerve

optic nerve, hypoplasia of

optic neuropathy

optokinetic nystagmus, abnormal

ornithine transcarbamylase deficiency

orthostatic hypotension

osteopetrosis

osteoporosis

ovarian insufficiency

pachygyria

pain

pain, increased response

palatal myoclonus

palilalia

pallido-ponto-nigral degeneration

palmoplantar keratoderma

paraparesis, familial spastic

paraparesis, familial spastic, classification

paraparesis, spastic

paraparesis, spastic, tropical

paraspinal muscle

paraspinal muscle weakness

paratonia

paresthesias

Parkinson disease

Parkinson disease, arteriosclerotic

Parkinson disease, atypical

Parkinson disease, dementia with

Parkinson disease, diagnosis

Parkinson disease, differential diagnosis of

Parkinson disease, drug induced

Parkinson disease, dystonia with

Parkinson disease, familial

Parkinson disease, freezing phenomena in

Parkinson disease, misdiagnosis

Parkinson disease, pathogenesis of

Parkinson disease, rapid progression

Parkinson disease, surgical treatment of

Parkinson disease, treatment of

Parkinson disease, young onset

Parkinsonism multiple-system atrophy

Parkinsonism syndrome

Parkinsonism-dementia complex

paroxysmal hemiplegia

paroxysmal neurologic deficits

PAS positive

PAS positive material in the brain

pathology

patient information and support

pectus excavatum

Pelizaeus Merzbacher

penicillamine

periventricular leukomalacia

phenylketonuria, adult onset

pheochromocytoma

philtrum, tented

photosensitivity, skin

Pick's disease

pigmentary retinopathy

Pittsburgh Compound B

pituitary, hormones of

pleocytosis of cerebrospinal fluid

poison, mercury

poison, neurologic problems with

POLG1 gene

polycystic kidneys

polycystic lipomembranous osteodysplasia

polydactyly

polyglucosan body

polyglucosan body disease

polyhydramnios

polymerase chain reaction

polyneuropathy

polyneuropathy, familial

polyps, gastrointestinal tract

pons, lesion of

pontocerebellar atrophy

Prader-Labhart-Willi syndrome

precipitating factors

preclinical

precocious puberty

pregnancy, neurologic complications in

premature infant

prenatal

prenatal diagnosis by amniocentesis

prevention of neurologic disorders

primary episodic ataxia

primary familial brain calcification

progressive infantile poliodystrophy

progressive myoclonic epilepsy

progressive neurologic disorder

progressive pallidum atrophy

progressive subcortical gliosis

progressive supranuclear palsy

prolactin, elevated

protein 14-3-3, cerebrospinal fluid

pseudohypoparathyroidism

pseudoretinitis pigmentosa

pseudoxanthoma elasticum

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychological testing, neurologic problems

psychomotor retardation

pulmonary hypertension

pulmonary infiltrates

pulmonary stenosis

pulvinar sign

Purkinje cell

pursuit eye movements, abnormal

putamen, lesion of

pyramidal

pyramidal tract

pyramidal tract dysfunction

pyridoxine

pyridoxine deficiency

pyruvate dehydrogenase deficiency

pyruvate metabolism, abnormality of

quadriparesis

quadriplegia

radiation encephalopathy, delayed

radiation hypersensitivity

radiation therapy, CNS treatment and complications with

radiculopathy

ragged-red fibers

rapid onset dystonia parkinsonism

rapidly progressing neurologic illness

rash

real-time quaking-induced conversion

recurrent

red eye

Red flags

reduplicative paramnesia

renal tubular acidosis

ReNU syndrome

research

respirations in CNS disease

respiratory depression

respiratory failure

respiratory tract infection

reversible neurologic disorder

review article

rhabdomyosarcoma of heart

saccadic eye movements, abnormal

salivation, excessive

scoliosis, neurologic association with

seizure, drug resistance

seizure, familial

seizure, febrile

seizure, focal

seizure, injury following

seizure, intractable

seizure, laughing as manifestation

seizure, neonatal

seizure, pyridoxine dependent

seizure, teenager

seizure, tonic-clonic

self-mutilation

semialdehyde dehydrogenase deficiency

senile plaques

sensorineural hearing loss

sensory loss

sensory polyneuropathy

single photon emission computed tomography

Sjogren-Larsson syndrome

skin, biopsy

skin, darkening of

skin, lesions in neurologic disorders

skull bone, thickening

skull x-ray, abnormal

skull x-ray, bony defect on

sleep pathology and physiology

slit lamp examination

slow virus infection of CNS

small vessel disease

small vessel disease, cerebral

sodium channel dysfunction

somatosensory evoked potentials

Southern immunoblot test

spastic ataxia

spastic diplegia

spastic dysphonia

spastic paraplegia, type 11

spastic paraplegia, type 15

spasticity

speech disorder

speech disorder, childhood

speech, absence of

speech, delayed development of

speech, slowed

speech, soft

sphingolipodoses

Spielmeyer Vogt syndrome

spinal cord, infarction of

spinal cord, lesion of

spinal cord, pathologic exam of

spinal muscular atrophy

spinocerebellar ataxia

spinocerebellar ataxia type 1

spinocerebellar ataxia type 17

spinocerebellar ataxia type 2

spinocerebellar ataxia type 7

spinocerebellar degeneration

spinopontine atrophy, dominant

splenium of corpus callosum

splenomegaly

spongy degeneration of brain

spontaneous remission

staphylococcus aureus

stem cell transplantation

stereotyped behavior

stereotyped behavior, drug induced

stereotypy

steroid therapy, CNS treatment and complications with

stimulant drugs

stooped posture

storage disease of CNS

strabismus

streptococcal infection

streptococcus viridans

striatum, lesion of

striatum, lesion of, bilateral

stridor

striopallidodentate calcifications, familial idiopathic

strokelike episodes

stuporous

Sturge-Weber syndrome

stuttering

subarachnoid hemorrhage

symmetric brain lesions

tapetoretinal degeneration

temporal lobe, atrophy

temporal lobe, lesion

temporal lobe, lesion, bilateral

tentorium cerebelli

testicular enlargement

thalamic tumors

thalamic tumors, bilateral

thalamus

thalamus, atrophy of

thalamus, infarction of

thalamus, infarction, bilateral

thalamus, lesion of

thalamus, lesion of-bilateral

thalassemia

thalassemia/mental retardation syndrome

thiamine

thiamine deficiency

thromboangiitis obliterans cerebri

tongue, fasciculations of

tongue, protrusion of

top of the basilar syndrome

torticollis

toxins, nervous system

transient ischemic attack

transient ischemic attack, recurrent

transient neurologic deficit

trauma

treatment of neurologic disorder

trientine dihydrochloride

trinucleotide repeats

tripping

tuberin

tuberous sclerosis

tuberous sclerosis, screening for

twins

tyrosine hydroxylase deficiency

ultrasonography

umbilical-cord blood transplantation

unconsciousness

undiagnosed

upgaze, paralysis of

urea-cycle enzymopathies

urine test for metabolic disorders

urine, dark

Usher's syndrome

valvulopathy

vanishing white matter

vasculopathy

vasospasm, cerebral

venous thrombosis, non-cerebral

vertigo

vertigo, episodic

very long chain fatty acids

vibratory sensation, abnormal

vinblastine

vincristine neurotoxicity

vision, failure of in childhood

visual acuity, decreased

visual evoked response

visual field defect

visual fields, constricted

visual impairment

visual loss

visual loss, congenital

visual loss, progressive

visual loss, slow

visuospatial disturbance

walking, difficulty with

weakness

weakness, chronic

weakness, generalized

weakness, progressive

web sites

weight loss

Wernicke's aphasia

Wernicke's encephalopathy

West disease

wheelchair

white matter disease

white matter disease, subcortical

whole genome sequencing

wide based gait

Wolff-Parkinson-White syndrome

Wood's light

word-finding difficulty

x-linked hydrocephalus

x-linked intellectual deficit

X-linked lissencephaly

x-linked mental retardation

zinc

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NEJM 376:1668-1678, CASE 13-2017, 2017

Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017

Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
Orphanet J Rare Dis 12:166, Heitz, C., et al, 2017

A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016

A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015

Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015

Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015

Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Gertsmann-Straussler Schneinker Syndrome
Adams & Victors Principles of Neurology, Chp 33, pg 773, Ropper, A.H.,et al, 2014

Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014

Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
JNNP 85:354-356, Sone, J.,et al, 2014

Autism
Lancet 383:896-910, Lai, M.C.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Galactosemia
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 960, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 988, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Alzheimer Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1063, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Familial Dementia with Spastic Paraparesis
Adams & Victors Principles of Neurology, Chp 39, pg 1081, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Parkinson Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1082, Ropper, A.H.,et al, 2014

Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014

Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013

Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013

Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013

Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
Lancet 380:1674-1682, Rauch, A.,et al, 2012

Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012

The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
Stroke 43:2871-2876, Pescini, F.,et al, 2012

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012

Cerebral Amyloid Angiopathy
eMedicine, Jan, Menon, R.S., 2012

Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012

CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012

Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011

Treat Alzheimer Disease Before It Is Symptomatic
Arch Neurol 68:1237-1238, , 2011

Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010

Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010

Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009

Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009

Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009

Association of Parental Dementia With Cognitive and Brain MRI Measures in Middle-Aged Adults
Neurol 73:2071-2078, 2054, Debette,S.,et al, 2009

Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009

Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009

The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
Neurol 71:925-929, Van Gerpen,J.A.,et al, 2008

Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008

Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008

Tuberous Sclerosis Complex: A Tale of Two Genes
Neurol 70:904-905, Nass,R. &Crino,P.B., 2008

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