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Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)

ADAMS, J. S ; ADAMS, P. E ; DECARLI, C ; HAGERMAN, P. J ; HAGERMAN, R. J ; NGUYEN, D ; BRUNBERG, J. A ; TASSONE, F ; ZHANG, W ; KOLDEWYN, K ; RIVERA, S. M ; GRIGSBY, J ; ZHANG, L

Neurology, 2007-08, Vol.69 (9), p.851-859 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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Título:
Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)
Autor: ADAMS, J. S ; ADAMS, P. E ; DECARLI, C ; HAGERMAN, P. J ; HAGERMAN, R. J ; NGUYEN, D ; BRUNBERG, J. A ; TASSONE, F ; ZHANG, W ; KOLDEWYN, K ; RIVERA, S. M ; GRIGSBY, J ; ZHANG, L
Assuntos: Adult ; Aged ; Ataxia - genetics ; Ataxia - pathology ; Ataxia - physiopathology ; Atrophy - genetics ; Atrophy - pathology ; Biological and medical sciences ; Cerebellar Diseases - genetics ; Cerebellar Diseases - pathology ; Cerebellar Diseases - physiopathology ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA Mutational Analysis ; Female ; Fragile X Mental Retardation Protein - genetics ; Fragile X Syndrome - genetics ; Fragile X Syndrome - pathology ; Fragile X Syndrome - physiopathology ; Genetic Predisposition to Disease - genetics ; Genetic Testing ; Genotype ; Humans ; Magnetic Resonance Imaging ; Male ; Medical sciences ; Middle Aged ; Nerve Fibers, Myelinated - pathology ; Nervous system (semeiology, syndromes) ; Nervous system as a whole ; Neurology ; Sex Characteristics ; Tremor - genetics ; Tremor - pathology ; Tremor - physiopathology ; Trinucleotide Repeat Expansion - genetics
É parte de: Neurology, 2007-08, Vol.69 (9), p.851-859
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descrição: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder occurring in male and rare female carriers of a premutation expansion (55 to 200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Volumetric MRI studies, clinical staging, cognitive testing, and molecular analysis were conducted in 15 female premutation carriers affected by FXTAS (age 59.5 +/- 10.3 years), 20 unaffected female carriers (43.3 +/- 11.2 years), 11 genetically normal female controls (51.0 +/- 10.3 years), 36 affected male carriers (65.0 +/- 5.6 years), 25 unaffected male carriers (53.5 +/- 12.5 years), and 39 male controls (58.0 +/- 15.0 years). Female and male carriers with FXTAS were matched on duration of disease. We found less pronounced reductions of cerebellar volume and a lower incidence of involvement (symmetric high T2 signal) of the middle cerebellar peduncles (MCP sign) in females affected by FXTAS (13%) compared with affected males (58%). We found reduced brain volumes and increased white matter disease associated with the presence of FXTAS in females compared with female controls. We also observed significant associations between reduced cerebellar volume and both increased severity of FXTAS symptoms and increased length of the CGG repeat expansion in male premutation carriers, but not in females. Females affected by fragile X-associated tremor/ataxia syndrome (FXTAS) demonstrated milder brain changes than affected males, although they showed a similar pattern of radiologic findings consistent with brain atrophy and white matter disease. FXTAS should be considered (by ordering fragile X DNA testing) in females who present with late-onset ataxia, action tremor, or neuropathy, particularly in those with a family history of mental retardation, autism, or premature ovarian failure.
Editor: Hagerstown, MD: Lippincott Williams & Wilkins
Idioma: Inglês

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Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)

ADAMS, J. S ; ADAMS, P. E ; DECARLI, C ; HAGERMAN, P. J ; HAGERMAN, R. J ; NGUYEN, D ; BRUNBERG, J. A ; TASSONE, F ; ZHANG, W ; KOLDEWYN, K ; RIVERA, S. M ; GRIGSBY, J ; ZHANG, L

Hagerstown, MD: Lippincott Williams & Wilkins

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