149 research outputs found
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients
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
mutatio
Epilessia e sonno: variazioni dei potenziali epilettici nel corso della notte
Epilepsy and sleep. Quantitative changes of epileptic potentials during the course of the nigh
Re: Amplitude ratio of ulnar sensory nerve action potentials in segmental conduction study.
The Italian CMT study group performed a multicentre, multidimensional, longitudinal 2-year follow-up study using validated measurements of neurological impairment, disability and quality of life. The aim of the study was to evaluate the natural history of clinical features, disability and QoL in patients with CMT1A. On clinical examination, CMT1A patients showed a significant reduction in muscle strength and sensory function during the 2-year follow-up period. However, there was no worsening of QoL or disability, nor was depression observed. The discrepancy between the evolution of clinical features and the evolution of QoL and disability may be due to the development of compensatory strategies that help patients cope with the slow progression of the disease. Our observations provide information which may be useful when designing clinical trials in CMT
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