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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 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
JAMA Neurol 81:658-659, Marien,L.,et al, 2024
A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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Neurodegeneration with Brain Iron Accumulation
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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Neurological Management of Von Hippel-Lindau Disease
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DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Neurofibromatosis Type 2
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Aicardi-Gouti�res Syndrome
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Hereditary Hemorrhagic Telangiectasia
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Trinucleotide Repeat Expansion in Neurological Disease
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Giant Axonal Neuropathy:Progressive Clinical and Radiologic CNS Involvement
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Cockayne Syndrome: Review of 140 Cases
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Radiologic Screening for von Hippel-Lindau Disease:Role of Gd-DTPA Enhanced MR Imaging of the CNS
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Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
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Ribbon-Like Sign in Convexity Subarachnoid Hemorrhage
Ann Neurol 99:881-882, Liu,S-X.,et al, 2026
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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The Spectrum of Fragile X Disorders
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A 9-Year-Old Girl with CNS Immune Dysregulation
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A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
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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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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022