title: FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.
abstract: In an Italian population of 275 unrelated men affected by adult-onset sporadic progressive cerebellar ataxia, the authors found six patients carrying an FMR1 gene premutation. Age at onset (range, 53 to 69 years) and clinical-neuropathologic findings were consistent with the fragile-X tremor ataxia syndrome (FXTAS), although tremor was not as common as previously described. FXTAS accounted for 4.2% of the cases diagnosed at >50 years, suggesting that it is a frequent genetic cause of late-onset sporadic ataxia.
authors.affiliation: Dipartimento di Genetica, Biologia e Biochimica, Università degli Studi di Torinoand S.C. Genetica Medica, Ospedale San Giovanni Battista di Torino, Turin, Italy. alfredo.brusco@unito.it
authors.forename: A
authors.initials: A
authors.lastname: Brussino
authors.forename: C
authors.initials: C
authors.lastname: Gellera
authors.forename: A
authors.initials: A
authors.lastname: Saluto
authors.forename: C
authors.initials: C
authors.lastname: Mariotti
authors.forename: C
authors.initials: C
authors.lastname: Arduino
authors.forename: B
authors.initials: B
authors.lastname: Castellotti
authors.forename: M
authors.initials: M
authors.lastname: Camerlingo
authors.forename: V
authors.initials: V
authors.lastname: de Angelis
authors.forename: L
authors.initials: L
authors.lastname: Orsi
authors.forename: P
authors.initials: P
authors.lastname: Tosca
authors.forename: N
authors.initials: N
authors.lastname: Migone
authors.forename: F
authors.initials: F
authors.lastname: Taroni
authors.forename: A
authors.initials: A
authors.lastname: Brusco
mesh_terms: D017668:Age of Onset; D000368:Aged; D002524:Cerebellar Ataxia / Q000209:etiology* / Q000235:genetics*; D051860:Fragile X Messenger Ribonucleoprotein 1; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human