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Fragile X Premutation With Atypical Symptoms at Onset
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Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
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A 58-Year-Old Man With Resting tremor, Bradykinesia, and Distal Numbness
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Complex Ataxia
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The Autosomal Recessive Cerebellar Ataxias
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Niemann-Pick Type C Disease
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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Niemann-Pick Disease Type C
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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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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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Spinal Muscular Atrophy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Adult-Onset Niemann-Pick Disease Type C Masquerading As Spinocerebellar Ataxias
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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Duchenne Muscular Dystrophy
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A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Neurodegeneration with Brain Iron Accumulation
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