Spastic Paraplegia in Middle Age.
نویسنده
چکیده
منابع مشابه
Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN).
Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral neuropathy. In this study, which included 61 individuals (age 5-72 years, 42 females) affected by SPOAN, a comprehensive motor and functional eva...
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A population-based, cross-sectional study was performed in southeast Norway, between January 2002 and February 2008, to identify subjects with hereditary ataxia and hereditary spastic paraplegia, and to estimate the prevalence of these disorders. Patients were recruited through colleagues, families, searches in computerized hospital archives and the National Patients' Association for Hereditary...
متن کاملPhenotype of autosomal dominant spastic paraplegia linked to chromosome 2.
We report the clinical features of 12 families with autosomal dominant spastic paraplegia (ADSP) linked to the SPG4 locus on chromosome 2p, the major locus for this disorder that accounts for approximately 40% of the families. Among 93 gene carriers, 32 (34%) were unaware of symptoms but were clinically affected. Haplotype reconstruction showed that 90% of the asymptomatic gene carriers present...
متن کاملChild neurology: hereditary spastic paraplegia in children.
S.T. de Bot, MD B.P.C. van de Warrenburg, MD, PhD H.P.H. Kremer, MD, PhD M.A.A.P. Willemsen, MD, PhD Because the medical literature on hereditary spastic paraplegia (HSP) is dominated by descriptions of adult case series, there is less emphasis on the genetic evaluation in suspected pediatric cases of HSP. The differential diagnosis of progressive spastic paraplegia strongly depends on the age ...
متن کاملSpastic paraplegia associated with brachydactyly and cone shaped epiphyses.
Male uniovular twins presented at the age of 20 years with spastic paraplegia which had been slowly progressing over the years. Both have skeletal anomalies of their hands and feet with brachydactyly, cone shaped epiphyses, and an abnormal metaphyseal phalangeal pattern profile. In addition, they have a non-specific dysarthria and low-normal intellectual ability.
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ورودعنوان ژورنال:
- Postgraduate medical journal
دوره 26 293 شماره
صفحات -
تاریخ انتشار 1950