FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.
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.
Brussino
A
A
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
Gellera
C
C
Saluto
A
A
Mariotti
C
C
Arduino
C
C
Castellotti
B
B
Camerlingo
M
M
de Angelis
V
V
Orsi
L
L
Tosca
P
P
Migone
N
N
Taroni
F
F
Brusco
A
A
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
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human