Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Startle Disease, or Hyperrekplexia:Clonazepam and Assign of Gene (STHE) to Chromosoma 5q by Linkage Analysis
Ann Neurol 31:663-668, Ryan,S.G.,et al, 1992
Hyperekplexia
Arch Neurol 40:246-248, Kurczysnki,T.W., 1983
Familial Paroxysmal Dystonic Choreoathetosis & its Differentiation From Related Syndromes
Ann Neurol 2:285, Lance,J.W., 1977
Clinicopathological Conference, Glutamic Acid Decarborylase 65 Autoantibody-Associated Stiff-Person Syndrome
NEJM 390:1712-1719, Case 14-2024, 2024
An 82-Year-Old Woman with Subacute Ophthalmoparesis and Ataxia
Neurol 101:e570-e575, Rodrigo-Gisbert,M.,et al, 2023
A 35-year-old Woman with Hyperstartling Stiffness, and Accidental Falls
Neurol 88:e38-e41, Russo, S.P.,et al, 2017
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Creutzfeldt-Jakob Disease (Subacute Spongiform Encephalopathy)
Adams & Victors Principles of Neurology, Chp 33, pg 769, Ropper, A.H.,et al, 2014
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Clinicopath conf., Human Prion Disease, Sporadic CJD
Neurol 69:1881-1887, Geschwind,M.D., et al, 2007
The Acoustic Startle Reflex in Ischemic Stroke
Neurol 62:114-116, Jankelowitz,S.K. & Colebatch,J.G., 2004
AIDS Dementia Complex with Generalized Myoclonus
Mov Disord 12:593-597, Maher,J.,et al, 1997
Low Cerebrospinal Fluid Concentration of Free Gamma-Aminobutyric Acid in Startle Disease
Lancet 340:80-81, Dubowitz,L.M.S.,et al, 1992
Jumping Frenchmen of Maine
Neurol 36:1269-1271, Saint-Hilaire,M.,et al, 1986
Cocaine Use in Pregnancy
NEJM 313:666-669, Chasnoff,I.J.,et al, 1985
Hyperekplexia:A Syndrome of Pathological Startle Responses
Ann Neurol 15:36-41, Saenz-Lope,E.,et al, 1984
Clinicopathological Conference
Case 49-1983, Creutzfeldt-Jakob, NEJM 309:1440-1449983., , 1983
Clin. Path. Conference
Creutzfeldt-Jakob Disease, Ataxic Type, with Kuru Plaques, Case Record 45-1980, NEJM 303:1162-11710., , 1980
Clinical Pathologic Conference, Creutzfeldt-Jakob Disease, (Case record 43-1977)
NEJM 297:930, Scully,R.E.,et al, 1977
Case Records of MGH-NEJM 285:621
1971., , 1971
Startle Disease or Hyperkplexia Pathological Surprise Reaction
J Neurol Sci 5:523, Villeneuve,A.,et al, 1967
Hyperkplexia"Jumping Frenchman of Maine"
Arch Neurol 12:311, Stevens,H., 1965