Fragile X-associated tremor/ataxia syndrome (FXTAS) with myoclonus

Movement Disorders

Volumn 25, Issue 4, 2010, Pages 514-516

  Poston, Kathleen L ^a   McGovern, Robert A ^a   Goldman, Jill S ^a   Caccappolo, Elise ^a   Mazzoni, Pietro ^a  

^a Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ADULT; ATAXIA; BALANCE IMPAIRMENT; BRAIN ATROPHY; CASE REPORT; CEREBELLUM DYSSYNERGIA; COORDINATION DISORDER; DIAPHRAGM; DYSMETRIA; ELBOW; FAMILY HISTORY; FRAGILE X SYNDROME; FRONTOTEMPORAL DEMENTIA; GAIT DISORDER; GENETIC ANALYSIS; HEAD MOVEMENT; HUMAN; HYPERTENSION; INFORMATION RETRIEVAL; LETTER; MALE; MEMORY DISORDER; MINI MENTAL STATE EXAMINATION; MYOCLONUS; OVARY INSUFFICIENCY; PRIORITY JOURNAL; PROSTATE CANCER; TRINUCLEOTIDE REPEAT; TRUNK; UNSTEADINESS;

ATAXIA; BRAIN; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MYOCLONUS; TREMOR;

EID: 77949494580     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22929     Document Type: Letter

References (7)

1. Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001;57:127-130.
2. Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the International collaborative POF in fragile X study - preliminary data. Am J Med Genet 1999;83:322-325.
3. Hagerman RJ, Leavitt BR, Farzin F, et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 2004;74:1051-1056.
4. Berry-Kravis E, Abrams L, Coffey SM, et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord 2007;22:2018-2030; quiz 2140.
5. Cassim F, Houdayer E. Neurophysiology of myoclonus. Neurophysiol Clin 2006;36:281-291.
6. Cohen S, Masyn K, Adams J, et al. Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology 2006;67:1426-1431.
7. Brunberg JA, Jacquemont S, Hagerman RJ, et al. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. Am J Neuroradiol 2002;23:1757-1766.