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A 60-Year-Old Man with Weakness and Gait Dysfunction
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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 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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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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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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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
Neurol 98:468-469, Zhao, B.,et al, 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Duchenne Muscular Dystrophy
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Pediatric Leigh Syndrome
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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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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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
JAMA Neurol 74:238-241, Dubey, D.,et al, 2017
DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
Neurol 84:226-230,218, Wolf, N.I.,et al, 2015
Chronic and Slowly Progressive Weakness of the Legs and Hands
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Diagnosis and New Treatments in Muscular Dystrophies
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
Neurol 67:859-863, Rauschka,H.,et al, 2006
Dystonia
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Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Hereditary Spastic Paraplegia
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SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
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