TY - JOUR
T1 - Spinocerebellar ataxia type 7
T2 - Report of a new Italian family
AU - Italiano, Domenico
AU - Tarantino, Patrizia
AU - De Marco, Elvira Valeria
AU - Calabrò, Rocco Salvatore
AU - Bramanti, Placido
AU - Quattrone, Aldo
AU - Annesi, Grazia
PY - 2012
Y1 - 2012
N2 - 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 permutated intermediate allele carried by one parent.
AB - 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 permutated intermediate allele carried by one parent.
KW - Ataxia
KW - CAG expansion
KW - Neurodegenerative disease
KW - SCA7
UR - http://www.scopus.com/inward/record.url?scp=84867793416&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84867793416&partnerID=8YFLogxK
U2 - 10.2169/internalmedicine.51.8090
DO - 10.2169/internalmedicine.51.8090
M3 - Article
C2 - 23064575
AN - SCOPUS:84867793416
VL - 51
SP - 2953
EP - 2955
JO - Internal Medicine
JF - Internal Medicine
SN - 0918-2918
IS - 20
ER -