Copper Deficiency as a Treatable Cause of Poor Balance
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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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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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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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Severe Vitamin B12 Deficiency Presenting as Pancytpenia, Hemolytic Anemia, and Parasthesia:Could Your B12 Be Any Lower?
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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Complex Ataxia
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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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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 2017
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Progressive Cerebellar Ataxia and New-Onset Diabetes
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Copper Deficiency
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Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin B12 (Cobalamin) Deficiency (Subacute Combined Degeneration)
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A Man with Tingling Fingers
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Cognitive Delay in a 7-year-old Girl
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The Autosomal Recessive Cerebellar Ataxias
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3-Methylglutaconic Aciduria Type I Redefined: A Syndrome With Late-Onset Leukoencephalopathy
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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Clinicopath Conf, Pernicious Anema with Autoimmune Gastritis and B12 Deficiency
NEJM 351:1333-1341, Case 30-2004, 2004
Neurologic Manifestations of Vitamin B12 Deficiency
NEJM 348:2208, Scherer,K., 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
Neurol 58:983-984, Matsuura,T.,et al, 2002
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Nitrous Oxide Anesthesia-Associated Myelopathy
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Myelopathy Caused by Nitrous Oxide Toxicity
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Cerebral Manifestation of Erdheim-Chester Disease:Clinical and Radiologic Findings
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The Inherited Ataxias and the New Genetics
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
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Autosomal Dominant Cerebellar Phenotypes:The Genotype has Settled the Issue
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Clinicopath Conf
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HIV Encephalopathy and Dementia
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Neurologic Aspects of Cobalamin Deficiency
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