TY - JOUR
T1 - Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients
AU - Modoni, Antonio
AU - Contarino, Maria Fiorella
AU - Bentivoglio, Anna Rita
AU - Tabolacci, Elisabetta
AU - Santoro, Marco
AU - Calcagni, Maria Lucia
AU - Tonali, Pietro Attilio
AU - Neri, Giovanni
AU - Silvestri, Gabriella
PY - 2007
Y1 - 2007
N2 - We evaluated the prevalence of the SCA2 mutation
among 224 Italian patients affected by typical Parkinsonism,
including 145 sporadic and 79 familial forms. Pink1, Parkin,
and LRRK2 gene mutations had been excluded previously.
Molecular testing for the CAG expansion at the SCA 2 locus
was performed on leukocyte DNA. Cloning and sequencing of
the expanded allele was performed in patients positive for the
SCA2 expansion. A 38 CAG expansion was detected in 1 of 79
families studied. The proband, a male age 67, and his sister, age
69, were both affected by a benign form of L-dopa–responsive
Parkinsonism not associated with cerebellar signs. The inheritance
was autosomal dominant. The CAG expansion was stable
through meiotic transmission: sequence analysis showed that
the CAG stretch was interrupted by 3 CAA. Our study shows
that CAG expansion at the SCA 2 locus may represent a genetic
cause of familial L-dopa–responsive Parkinsonism among Italian
patients. The stability of the pathological CAG expansion
detected in this family was related to the presence of CAA
interruptions. These findings, together with literature data, suggest
that the molecular intrinsic structure of the expanded allele
may modulate the phenotypic expression of the SCA2
mutation
AB - We evaluated the prevalence of the SCA2 mutation
among 224 Italian patients affected by typical Parkinsonism,
including 145 sporadic and 79 familial forms. Pink1, Parkin,
and LRRK2 gene mutations had been excluded previously.
Molecular testing for the CAG expansion at the SCA 2 locus
was performed on leukocyte DNA. Cloning and sequencing of
the expanded allele was performed in patients positive for the
SCA2 expansion. A 38 CAG expansion was detected in 1 of 79
families studied. The proband, a male age 67, and his sister, age
69, were both affected by a benign form of L-dopa–responsive
Parkinsonism not associated with cerebellar signs. The inheritance
was autosomal dominant. The CAG expansion was stable
through meiotic transmission: sequence analysis showed that
the CAG stretch was interrupted by 3 CAA. Our study shows
that CAG expansion at the SCA 2 locus may represent a genetic
cause of familial L-dopa–responsive Parkinsonism among Italian
patients. The stability of the pathological CAG expansion
detected in this family was related to the presence of CAA
interruptions. These findings, together with literature data, suggest
that the molecular intrinsic structure of the expanded allele
may modulate the phenotypic expression of the SCA2
mutation
KW - Datscan
KW - Parkinson
KW - SPECT
KW - Datscan
KW - Parkinson
KW - SPECT
UR - http://hdl.handle.net/10807/10965
M3 - Article
SN - 0885-3185
SP - 324
EP - 327
JO - Movement Disorders
JF - Movement Disorders
ER -