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A 6-Year-Old Girl with Progressive Toe Walking
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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The Spectrum of Fragile X Disorders
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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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
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Adult-Onset Niemann-Pick Disease Type C Masquerading As Spinocerebellar Ataxias
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Neurodegeneration with Brain Iron Accumulation
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Huntington Disease: Clinical Features and Diagnosis
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
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A 28-year-old Woman with Lower Extremity Spasticity and Microcytic Anemia
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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
Neurol 72:1607-1613, Lossos,A.,et al, 2009
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
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