Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: A new female case [9]

Movement Disorders

Volumn 22, Issue 11, 2007, Pages 1677-1678

  Horvath, Judit ^a   Burkhard, Pierre R ^a   Morris, Michael ^a   Bottani, Armand ^a   Moix, Isabelle ^a   Delavelle, Jacqueline ^a  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

PROPRANOLOL;

AGED; CASE REPORT; CEREBROVASCULAR DISEASE; DISEASE ASSOCIATION; DYSPHONIA; DYSTONIA; FEMALE; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; FRAGILE X SYNDROME; GAIT DISORDER; GENE MUTATION; GENETIC SCREENING; HUMAN; LARYNX DISORDER; LETTER; MEMORY DISORDER; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; PHENOTYPIC VARIATION; PRIORITY JOURNAL; TREMOR; X CHROMOSOME INACTIVATION;

AGED; ATAXIA; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; PHENOTYPE; TREMOR;

EID: 34748880203     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21571     Document Type: Letter

References (9)

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. Jacquemont S, Hagerman RJ, Leehey M, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004;291:460-469.
3. Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical and neuroimaging correlates. Am J Hum Genet 2003;72:869-878.
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6. Tassone F, Hagerman RJ, Taylor AK, et al. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 2000;66:6-15.
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8. 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.
9. O'Dwyer JP, Clabby C, Crown J, Barton DE, Hutchinson M. Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy. Neurology 2005;65:331.