A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
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A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024
Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Complex Ataxia
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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An Unusual Fundus Finding in a Teenage Girl
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Recessive Ataxia With Ocular Apraxia
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clinical and Genetic Studies of Fatal Familial Insomnia
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Clin & Path Features of an Autosomal Dominant, Adult-Onset Leukodystrophy Simul Chronic Progressive MS
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Fatal Familial Insomnia, A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
NEJM 326:444-449, Medori,R.,et al, 1992
Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Computed Tomography and Magnetic Resonance Imaging in Adult-Onset Leukodystrophy
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Fatal Familial Insomnia & Dysautonomia with Selective Degeneration of Thalamic Nuclei
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
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Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
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Multiple Endocrine Neoplasia, Type 2b:Phenotype Recognition; Neurological Features & Their Pathological Basis
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Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
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Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
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Nerve-Growth Factor in Familial Dysautonomia
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Genetic Counseling in Retinitis Pigmentosa
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
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A 6-Year-Old Girl with Progressive Toe Walking
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