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A 9-Year-Old Girl with CNS Immune Dysregulation
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Red Papules on the Tongue of a Patient with Hemiparesis
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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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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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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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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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Alzheimers Disease
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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