Spinocerebellar ataxia type 7: report of a new Italian family.
Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by degeneration of the cerebellum, brainstem and retina. We herein describe a family from southern Italy whose proband was a 49-year-old man presenting with ataxia with progressive gait disturbances, clumsiness and visual impairment. A molecular analysis identified 38 cytosine-adenine-guanine (CAG) repeat expansions within the SCA7 gene. Our study confirms the marked anticipation previously observed in SCA7 and extends the small number of patients studied thus far. In this family, the disease is most likely caused by a de novo expansion of a premutated intermediate allele carried by one parent.
IRCCS Centro Neurolesi Bonino Pulejo, Italy. domenicoitaliano@hotmail.com
Domenico
D
Italiano
Patrizia
P
Tarantino
Elvira Valeria
EV
De Marco
Rocco Salvatore
RS
Calabrò
Placido
P
Bramanti
Aldo
A
Quattrone
Grazia
G
Annesi
D000328:Adult; D005190:Family; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics; D055815:Young Adult