Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred)

Movement Disorders

Volumn 26, Issue 11, 2011, Pages 2134-2136

  Gwinn, Katrina ^a   Devine, Michael J ^b   Jin, Lee Way ^c   Johnson, Janel ^a   Bird, Thomas ^c   Muenter, Manfred ^d   Waters, Cheryl ^e   Adler, Charles H ^d   Caselli, Richard ^d   Houlden, Henry ^b   Lopez, Grisel ^f   Singleton, Amanda ^a   Hardy, John ^b   Singleton, Andrew ^g  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF WASHINGTON   (United States)

^d MAYO CLINIC   (United States)

^e Columbia University College of Physicians and Surgeons ^*  (United States)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^g National Institute for Aging   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; CARBIDOPA PLUS LEVODOPA; CLONAZEPAM; COCAINE; DONEPEZIL; FLUOXETINE; METHAMPHETAMINE; MIDODRINE; ROPINIROLE;

ADULT; ANOSMIA; ANXIETY; AUDITORY HALLUCINATION; BLOOD PRESSURE; BRADYKINESIA; CASE REPORT; CONFUSION; CONTRACTURE; DEPRESSION; DEPTH PERCEPTION; DISEASE COURSE; DOCUMENTATION; DRUG ABUSE; DYSKINESIA; EXECUTIVE FUNCTION; FAMILIAL DISEASE; FAMILIAL LEWY BODY PARKINSONISM; FEMALE; HALLUCINOSIS; HANDWRITING; HUMAN; INTELLIGENCE QUOTIENT; LETTER; LEWY BODY; MALE; MORTALITY; MUSCLE RIGIDITY; MYOCLONUS; ORTHOSTATIC HYPOTENSION; PARASOMNIA; PARKINSON DISEASE; PARKINSONISM; POSITIONAL DIZZINESS; PRIORITY JOURNAL; RECALL; RESTLESS LEGS SYNDROME; SACCADIC EYE MOVEMENT; SPEECH; SUICIDE ATTEMPT; TREMOR; UNITED STATES; URINARY URGENCY; VIDEORECORDING; VISUAL HALLUCINATION; WEIGHT REDUCTION; WORKING MEMORY;

ADULT; ALPHA-SYNUCLEIN; FAMILY HEALTH; FEMALE; GENETIC LINKAGE; HUMANS; MIDDLE AGED; PARKINSON DISEASE; VIDEO RECORDING;

EID: 80052410038     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23776     Document Type: Letter

References (6)

1. Singleton AB, Farrer M, Johnson J, et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science. 2003; 302: 841.
2. Spellman GG. Report of familial cases of parkinsonism. Evidence of a dominant trait in a patient's family. JAMA. 1962; 179: 372-374.
3. Waters CH, Miller CA. Autosomal dominant Lewy body parkinsonism in a four-generation family. Ann Neurol. 1994; 35: 59-64.
4. Muenter MD, Forno LS, Hornykiewicz O, et al. Hereditary form of parkinsonism-dementia. Ann Neurol. 1998; 43: 768-781.
5. Farrer M, Gwinn-Hardy K, Muenter M, et al. A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet. 1999; 8: 81-85.
6. Gwinn-Hardy K, Mehta ND, Farrer M, et al. Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p. Acta Neuropathol. 2000; 99: 663-672.