Neudle.com: "cerebellar degeneration hereditary"

Differential
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abdominal distention

abdominal reflex, absent

abducens nerve paralysis

acanthocytosis

acetazolamide

acetylcholine

achilles tendon, enlarged

acoustic nerve

acoustic neurinoma, bilateral

acquired immunodeficiency syndrome

acquired immunodeficiency syndrome myelopathy

acromicria

Addison's disease

adrenoleukodystrophy

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

adult-onset leukodystrophy, with neuroaxonal spheroids

advances in neurology

adverse drug reaction

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.

alcoholism

Alexanders disease

Alexanders disease, adult onset

altered states of consciousness

alternating hemiplegia

alternating hemiplegia of childhood

alternating rapid movement

alternating rapid movement, impaired

Alzheimer's disease

Alzheimer's disease, early onset

Alzheimer's disease, familial

amyloid angiopathy, cerebral

amyloid plaques

amyotrophic lateral sclerosis

antibodies to voltage-gated calcium channels

anticholinesterase

anticonvulsants

anticonvulsants, effectiveness

apnea, primary central

apraxia

apraxia of eye movements

aqueduct of Sylvius, stenosis

aqueductal stenosis

areflexia

Arnold Chiari malformation

arrhythmia, cardiac

arterial dissection

arterial dissection, multiple

arterial dissection, recurrent

arterial dissection, renal artery

arterial dissection, ruptured

arterial dissection, vertebral

ataxia telangiectasia

ataxic-dystonia syndromes

ataxin

ataxin-2

atherosclerosis, premature

attention deficit disorder with hyperactivity

attention span

atypical

auditory evoked brainstem potentials

autism

autonomic dysfunction

autosomal dominant leukodystrophy

autosomal rcessive spastic ataxia of Charlevoix-Saguenay

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, lesion of

basal ganglia, lesion, bilateral

Bassen-Kornzweig syndrome

behavior, combative

behavioral disorder

benign essential tremor

benign essential tremor, refractory

beta adrenergic blocker

biologic markers

biotin deficiency

biotinidase deficiency

bladder dysfunction

blindness

blood dyscrasias, neurologic findings with

brainstem, hypoplasia

brainstem, lesion of

brainstem, malformation

brainstem, neoplasms of

brainstem, vascular malformation of

calcification, intracranial

calcification, intracranial, rim

calcium channel dysfunction

cane

carcinoembryonic antigen

carcinoma

carcinoma of pancreas

CAT scan, contrast enhanced

CAT scan, emission

CAT scan, emission, abnormal

catalepsy

cataplexy

cataracts

cataracts, congenital

caudate nucleus, lesion of, bilateral

cavernous hemangioma

celiac disease, adult

central core disease

central pontine myelinolysis

cerebellar ataxia, autosomal recessive

cerebellar ataxia, children

cerebellar ataxia, children, differential diagnosis of

cerebellar ataxia, hereditary

cerebellar ataxia, neuropathy and vestibular areflexia syndrome

cerebellar ataxia, primary

cerebellar atrophy, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar hemangioma

cerebellar hemorrhage

cerebellar hypoplasia

cerebellar infarction

cerebellar lesion

cerebellar peduncle

cerebellar plaques, amyloid

cerebellar vermis

cerebellum

cerebellum, disease of

cerebellum, neoplasms of

cerebral autosomal recessive arteriopathy with subcortical infarction and leukoencephalopathy

cerebral blood flow

cerebral cortex

cerebral cortical atrophy

cerebral edema

cerebral infarction, subcortical

cerebrospinal fluid, abnormal

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, pressure low

cerebrospinal fluid, proteincytologic dissociation

cerebrospinal fluid, xanthochromia of

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, cryptogenic

cerebrovascular accident, mimics

cerebrovascular accident, non atherosclerotic cause of

cerebrovascular accident, young adult

cerebrovascular disease

channelopathy

Charcot-Marie-Tooth

chemotherapy, CNS treatment and complications with

chenodeoxycholic acid

chewing movements

children

chloride channel dysfunction

chromosomal abnormality

chronic progressive external ophthalmoplegia

ciguatera poisoning

cirrhosis

cisterna magna, enlarged

Clinical Pathologic Conference(C.P.C.)

clonus

clubfoot as related to neurologic disease

collagen vascular disease

Collier's sign

color vision, impaired

coma

coma, episodic

comorbidities

compression neuropathy

cone-rod dystrophy

confabulation

congenital malformation

congestive heart failure

controversies in neurology

conus medullaris, lesion of

copper metabolism, abnormal

cornea, abnormal

cornea, opacity of

corpus callosum

corpus callosum, atrophy of

corpus callosum, lesion of

corpus callosum, thinning

cortical blindness

cough

cranial nerve palsies

cranial neuropathy, multiple

cranio-cervical junction

creatine phosphokinase(CPK)elevated

Creutzfeldt-Jakob disease, genetic

cultured skin fibroblasts

cyst

cyst, peritumoral

cyst, neoplastic cerebellum

degenerative diseases of CNS

dementia, frontotemporal

dementia, presenile

dementia, rapidly progressive

dementia, subcortical

dementia, transmissible

demyelinating disease

dentate nuclei

dentate nuclei, lesion of

dentatorubral-pallidoluysian atrophy

depression

dermatoglyphics

developmental abnormality of brain

developmental disability

developmental milestones

developmental milestones, loss of

developmental retardation

developmental venous anomalies

dexterity, impaired

diabetes insipidus

diabetes mellitus

diabetes mellitus, chemical

diabetes mellitus, neurologic manifestations of

diagnostic criteria

diarrhea

differential diagnosis

difficulty climbing stairs

dilantin

diplopia

disability, neurological

disease modifying agents

distal muscle atrophy

dizziness

DNA probes

down-beat nystagmus

down-beat nystagmus, primary position of gaze

Dravet syndrome

drooling

drug abuse, inhalation

dyssynergia cerebellaris myoclonica

Ehlers-Danlos syndrome

electrical sensation

electrocardiogram, abnormal

electroencephalogram

electroencephalogram, abnormalities of

encephalopathy, progressive

endolymphatic sac tumors

enzyme, defect

epicanthal folds

epidemiology of neurology

episodic disorders

episodic neurologic deficits

executive dysfunction

exercise

exercise intolerance

exome sequencing

extraocular muscle lesion

eye movement, disorders of

Fabry's disease

facial appearance, abnormal

facial expression abnormality

facial nerve palsy, bilateral

facial pain

failed medical management

familial hemiplegic migraine

familial periodic ataxia

family planning

fasciculation

fatal familial insomnia

fatigue

feeding disorder

fetal alcohol syndrome

fever

fine motor function, impaired

finger nose finger test

fingerprint bodies

fish

fluorescene in situ hybridization

fourth ventricle, enlargement of

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

fragile-X syndrome, carrier

frataxin

Friedreich's ataxia

Friedreich's ataxia, late onset

frontotemporal dementia, behavioral variant

fundus, abnormality of

gastrointestinal disease, neurologic complications

gastrointestinal motility

gastrointestinal perforation

gastroparesis

gaze palsy

gaze palsy, congenital horizontal

gaze palsy, horizontal

gaze palsy, horizontal-bilateral

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

genu of corpus callosum

Gerstmann-Straussler-Scheinker disease

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

glucose tolerance test, abnormal

GLUT1 deficiency syndrome

glutamate dehydrogenase deficiency

glutamic acid

granular osmiphilic material

gray hair

growth hormone deficiency

growth retardation

gyrus, abnormal

Hallervorden Spatz disease

Hallgren's syndrome

hallucination

hallucination, visual

hearing loss, bilateral

hearing loss, sudden, unilateral

hearing problems in children

heart block

heat intolerance

heavy metal intoxication

hemochromatosis, primary

hemophagocytic lymphohistiocytosis

hemophagocytic lymphohistiocytosis, cerebromeningeal

hemophagocytosis

hepatic encephalopathy

hepatic failure

hepatolenticular degeneration(Wilson's disease)

hepatolenticular degeneration(Wilson's disease), screening for

hepatolenticular degeneration, non-Wilsonian

hepatomegaly

hepatosplenomegaly

heralding manifestation

herniated disc, thoracic

HGPPS

HLA

hot cross bun sign

human T-lymphotropic virus type II(HTLV-II)

hydrocephalus, congenital

hydroxytryptophan L-5(L-5 HTP)

hyperactivity

hyperammonemic encephalopathy

hyperhidrosis

hypernephroma

hyperphagia

hyperpigmentation of skin

hypogonadism, hypogonadotropic

hypokalemia

hypokalemic periodic paralysis

hypomyelination

hyponatremia

hypopigmentation of skin

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

inattention

inborn errors of metabolism

incidental finding

inclusion bodies

inclusion bodies, eosinophilic cytoplasmic

inclusion bodies, eosinophilic intranuclear

inclusion bodies, intracytopasmic

inclusion bodies, intranuclear

inclusion bodies, ubiquitin

intellectual deterioration

intelligence quotient

internal capsule

internuclear ophthalmoplegia

internuclear ophthalmoplegia, bilateral

intestinal pseudoobstruction

intracerebral hemorrhage

intracerebral hemorrhage, lobar

intracerebral hemorrhage, recurrent

intracranial pressure, increased

Jakob-Creutzfeldt disease

Jakob-Creutzfeldt disease, cerebellar variant

Kayser-Fleischer ring

Kearns-Sayre syndrome

keratoconus

Korsakoff's psychosis

kyphoscoliosis, neurologic causes of

Laurence-Moon-Bardet-Biedl syndrome

L-dopa

Leber's congenital amaurosis

Leber's hereditary optic neuropathy

leg weakness, bilateral

Leigh's disease

Leigh's disease, adult variety

lenticular nucleus, lesion of

lenticular nucleus, lesion of, bilateral

leukemia

leukemia, neurologic findings assoc.with

leukodystrophy

leukoencephalopathy

leukoencephalopathy, adult onset, sporadic

leukoencephalopathy, differential diagnosis

leukoencephalopathy, hereditary diffuse

lifestyle modification

lipid storage disorder of CNS

lissencephaly

liver disease

liver function enzymes

liver transplantation

low back pain

lymphadenopathy

lymphoma

lysosomal storage disease

malformation, CNS, congenital

malformation, vascular

malformation, vascular, cerebral

malignant hyperpyrexia

maple syrup urine disease

marche a petits pas

Marinesco-Sjogren syndrome

masked facies

medulla oblongata

medulla oblongata, lesion of

medulla oblongata, malformation

medulla oblongata, neoplasm of

MELAS syndrome

memory, defect of recent

memory, impairment of

meningismus

meningitis, carcinomatous

meningoencephalopathy

metabolic disorder, primary

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

metachromatic leukodystrophy, juvenile

methotrexate

methyl benzene

methylhydrazine derivatives

Mexican

microcephaly

microdontia

microhemorrhage, intracerebral

midbrain, atrophy

midbrain, lesion of

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

Mini Mental Status Examination

misdiagnosis

mitochondrial disease

mitochondrial disease, pathogenesis

mitochondrial encephalomyopathy

MNGIE syndrome

molecular genetics

monoamine oxidase inhibitors

movement disorder, extrapyramidal

movement disorder, hyperkinetic

MRI

MRI pattern

MRI, abnormal

MRI, CAT scan compared to

MRI, contrast enhanced

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, FLAIR

MRI, gradient-echo

MRI, high signal foci on

MRI, high signal intensity of basal ganglia

MRI, incidental finding

MRI, negative

MRI, paramagnetic effect

MRI, punctate pattern

MRI, serial

MRI, spinal cord

MRI, susceptibility weighted

MRI, T1 weighted high signal foci

MRI, target sign

MRS

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, misdiagnosis

multiple system atrophy

muscle atrophy, progressive

muscle weakness, proximal

muscular dystrophy

myasthenic syndrome

myelitis, longitudinal

myopathy, mitochondrial

neonatal screening, genetic neurologic disorders

neoplasm, metastatic to CNS

neoplasm, posterior fossa

neoplasm, primary of CNS

neoplasm, primary of CNS-familial occurrence

neoplasm, primary of CNS-surgical treatment of

nerve biopsy

nerve conduction studies

nerve growth factor

neuritis

neuroaxonal dystrophy

neuroaxonal dystrophy, infantile

neuroaxonal dystrophy, juvenile

neuroaxonal leukodystrophy

neurocutaneous disease

neuroendocrinology

neurofibrillary degeneration

neurofibromatosis 1

neurogenic bladder

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic examination, focal

neurologic signs

neurologic testing

neuromyotonia

neuronal ceroid-lipofuscinosis

neuronal intranuclear inclusion disease

neuronopathy

neuronopathy, sensory

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

neuropathy, ataxic

neuropathy, demyelinating

neuropathy, hereditary peripheral

neuropathy, hypertrophic

neuropathy, onion bulb

neuropathy, peripheral

next-generation sequencing

nutritional deficiency

nystagmus

nystagmus, gaze-evoked

nystagmus, gaze-paretic

nystagmus, hereditary

nystagmus, monocular

nystagmus, pendular

nystagmus, periodic

nystagmus, primary position of gaze

nystagmus, rotary

nystagmus, upbeating-in primary position of gaze

nystagmus, vertical

obesity

ocular dysmetria

ocular motility, disorders of

ocular myopathy

oculodentodigital dysplasia

old age, neurology of

ophthalmoplegia

ophthalmoplegia, progressive external

opisthotonus

optic ataxia

optic atrophy

optic atrophy, hereditary

optic neuropathy

optical coherence tomography

optokinetic nystagmus, abnormal

orbit, tomograms of

organ rupture

orthostatic hypotension

oscillopsia

ovarian dysgenesis

ovarian insufficiency

overlap syndrome

owl's eye sign of spinal cord

paramyotonia congenita

paranoia

paraparesis

paraparesis, familial spastic

paraparesis, familial spastic, classification

Parkinson disease, benign tremulous

Parkinson disease, dystonia with

Parkinson disease, familial

Parkinson disease, L-dopa nonresponsive

Parkinsonism multiple-system atrophy

Parkinsonism syndrome

paroxysmal hemiplegia

paroxysmal neurologic deficits

PAS positive

PAS positive material in the brain

past pointing

pathology

patient information and support

photosensitivity, skin

physostigmine

phytanic acid

pigmentary retinopathy

pleocytosis of cerebrospinal fluid

pneumonia

pneumothorax

poison, mercury

poison, neurologic problems with

polymerase chain reaction

pontocerebellar atrophy

portal caval shunt

positional head-hanging test

posterior fossa, lesion of

postural abnormality

potassium channel antibodies

potassium channel dysfunction

Prader-Labhart-Willi syndrome

precipitating factors

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

pretectal syndrome

prevention of neurologic disorders

primary episodic ataxia

prion disease

prion protein gene

prisoners of war, neurologic complications in

progressive infantile poliodystrophy

progressive neurologic disorder

progressive pallidum atrophy

propranolol

proprioception, abnormal

protein 14-3-3, cerebrospinal fluid

proteinuria

prothrombin time, prolonged

pseudobulbar palsy

pseudoretinitis pigmentosa

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, neurologic problems

psychomotor retardation

pursuit eye movements, abnormal

putamen, lesion of

putamen, lesion of, bilateral

pyramidal

pyramidal tract

pyramidal tract dysfunction

pyramidal tract, uncrossed

pyruvate dehydrogenase deficiency

pyruvate metabolism, abnormality of

quadriparesis

quadriplegia

radiation hypersensitivity

radiation therapy, CNS treatment and complications with

radiation therapy, stereotactic

ragged-red fibers

rapid onset dystonia parkinsonism

rapidly progressing neurologic illness

rash

reading disorder, acquired

real-time quaking-induced conversion

recurrent

Refsum's disease

rehabilitation for neurologic disorders

release phenomena

remote effect of cancer on the nervous system

respiratory depression

respiratory failure

respiratory tract infection

reversible neurologic disorder

saccadic eye movements, abnormal

salivation, excessive

schizophrenia

SCN1A gene

scoliosis

scoliosis, neurologic association with

seizure, laughing as manifestation

seizure, neonatal

seizure, paradoxical

seizure, photosensitive

seizure, psychomotor-temporal lobe

seizure, tonic-clonic

seizure, treatment of

self-mutilation

semialdehyde dehydrogenase deficiency

senile plaques

sensorineural hearing loss

sensory ganglia

sensory ganglia, abnormal

skin, lesions in neurologic disorders

skull x-ray, abnormal

sleep apnea

sleep pathology and physiology

slurred speech

smiling

sodium channel dysfunction

solvent

somatosensory evoked potentials

spastic ataxia

spastic paraplegia, type 7

spasticity

speech disorder

speech disorder, childhood

speech disorder, non aphasic

speech, delayed development of

speech, loss of

Spielmeyer Vogt syndrome

spinal cord

spinal cord, extramedullary cyst of

spinal cord, lesion of

spinal cord, neoplasm

spinal cord, pathologic exam of

spinal cord, vascular malformation of

spinal muscular atrophy

spine, metastasis to

spinocerebellar ataxia

spinocerebellar ataxia type 1

spinocerebellar ataxia type 10

spinocerebellar ataxia type 12

spinocerebellar ataxia type 14

spinocerebellar ataxia type 17

spinocerebellar ataxia type 2

spinocerebellar ataxia type 28

spinocerebellar ataxia type 3/Machado Joseph disease

spinocerebellar ataxia type 5

spinocerebellar ataxia type 6

spinocerebellar ataxia type 7

spinocerebellar ataxia type 8

spinocerebellar degeneration

spinopontine atrophy, dominant

splenium of corpus callosum

splenomegaly

spondylolysis

spongy degeneration of brain

stem cell transplantation

stereotaxic surgery

stereotyped behavior

stereotypy

steroid therapy, CNS treatment and complications with

stimulation, deep brain

storage disease of CNS

strabismus

stress, emotional

striatonigral degeneration

striatonigral degeneration, infantile

striatum, lesion of

striopallidodentate calcifications, familial idiopathic

strokelike episodes

stuttering

subarachnoid hemorrhage

subcortical U fibers

substantia nigra

succinate dehydrogenase deficiency

suck, poor

sudden death

suicide

superior cerebellar peduncle

symmetric brain lesions

syncope

syndactyly

syphilis, neurologic complications with

teeth, number of in infants

teeth, wide-spaced

telangiectases

temper tantrums

temporal lobe, lesion

term infant

testicular enlargement

thalamotomy

thalamus, focused ultrasound ablation

thalamus, lesion of

thalamus, lesion of-bilateral

tongue, protrusion of

topiramate

toxins, nervous system

transient neurologic deficit

trazodone

treatment of neurologic disorder

tremor

tremor, cerebellar

tremor, classification

tremor, differential diagnosis of

tremor, intention

tremor, orthostatic

tremor, physiologic

tremor, post traumatic

tremor, surgical treatment of

tremor, thalamic stimulation for suppression of

trinucleotide repeats

trisomes

trisomy 9p

tubulopathy

tumor suppressor gene

undiagnosed

Unverricht-Lundborg disease

upgaze, paralysis of

urea-cycle enzymopathies

urinary frequency

urinary incontinence

urinary urgency

urine test for metabolic disorders

Usher's syndrome

vasculopathy

vertebral-basilar insufficiency

vertigo

vertigo, episodic

vertigo, treatment of

vestibular areflexia

vestibulopathy

vibratory sensation, abnormal

vinblastine

vincristine neurotoxicity

viral infection

viral isolation

vision, failure of in childhood

visual acuity, decreased

visual field defect

visual fields, constricted

visual loss

visual loss, progressive

visual loss, slow

visuospatial disturbance

vitamin supplementation

vitiligo

vocal cord paralysis

voice, abnormality of

Von Hippel Lindau

Von Hippel Lindau, carrier

Von Hippel Lindau, screening protocol for

von Hippel-Lindau, screening

Walker-Warburg syndrome

walking frame

walking, difficulty with

walking, difficulty with in dark

war

weakness

weakness, generalized

weakness, progressive

weaning from respirator, failure to

web sites

weight loss

Wernicke's encephalopathy

Western immunoblot test

wheelchair

white matter disease

white matter disease, pattern

whole genome sequencing

X-linked bulbospinal neuronopathy

x-linked intellectual deficit

x-linked mental retardation

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Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026

Bilateral Posterior Limb Internal Capsule T2 Hyperintensity and Severe Cerebellar Atrophy in 2 Lifelong Friends
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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The Spectrum of Fragile X Disorders
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024

A 35-Year-Old Woman with Personality Change and Gait Impairment
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024

A 24-Year-Old Man with Spastic Ataxia and Hypodontia
JAMA Neurol 81:658-659, Marien,L.,et al, 2024

A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023

Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023

Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022

More Than a Little Unsteady
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The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022

Adult-Onset Niemann-Pick Disease Type C Masquerading As Spinocerebellar Ataxias
Mol Genet Genomic Med 10:e1906, Vo,M.L.,et al, 2022

A Middle-Aged Man with Progressive Gait Abnormalities
Neurol 97:e2423-e2428, Lin, J.,et al, 2021

Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021

Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021

A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021

Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021

Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021

A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020

Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020

A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020

Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
Ann Neurol 87:10-11, Van Samkar, A.,et al, 2020

Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020

GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019

When MRI is a Clue in Episodic Ataxia
Neurol 93:e2074-e2075, Dhawan, S.R.,et al, 2019

Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019

Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019

An Unusual Fundus Finding in a Teenage Girl
JAMA Neurol 75:1566-1567, Filho, F.M.R.,et al, 2018

Essential Tremor
NEJM 378:1802-1810, Haubenberger, D.,et al, 2018

Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018

A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017

A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017

Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
JAMA Neurol 74:238-241, Dubey, D.,et al, 2017

Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017

A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 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

Neuroradiologic Patterns and Novel Imaging Findings in Aicardi-Goutieres Syndrome
Neurol 86:28-35, La Piana, R.,et al, 2016

The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016

Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016

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