Strumpell's familial spastic paraplegia: genetics and neuropathology
نویسندگان
چکیده
منابع مشابه
Strümpell's familial spastic paraplegia: genetics and neuropathology.
Uncomplicated Strümpell's disease (Strümpell's familial spastic paraplegia) with a dominant mode of inheritance is recorded in six families. The neuropathological findings in two cases from these families are given, bringing the total of similar histologically documented reports in the literature to 11. It is concluded that, although exact classification and identification of the many different...
متن کاملPMCA4 (ATP2B4) Mutation in Familial Spastic Paraplegia
Familial spastic paraplegia (FSP) is a heterogeneous group of disorders characterized primarily by progressive lower limb spasticity and weakness. More than 50 disease loci have been described with different modes of inheritance. In this study, we identified a novel missense mutation (c.803G>A, p.R268Q) in the plasma membrane calcium ATPase (PMCA4, or ATP2B4) gene in a Chinese family with autos...
متن کاملFamilial spastic paraplegia with Kallmann's syndrome.
A sibship is reported in which two males have spastic paraparesis and Kallmann's syndrome (hypogonadotrophic hypogonadism and anosmia). One of the brothers also is color blind. The association of familial spastic paraplegia and Kallmann's syndrome has not been described previously.
متن کاملElectrophysiological studies in familial spastic paraplegia.
Motor and sensory conduction studies have been performed in 10 patients from three families with uncomplicated familial spastic paraplegia whose ages ranged from 4 to 41 years. In all cases the values fell within the control range. The findings may be contrasted with those in Friedreich's ataxia and some other spinocerebellar degenerations in which peripheral nerve abnormalities are present.
متن کاملNeuropathology: Many Paths Lead to Hereditary Spastic Paraplegia
Studies with animal models are providing new insights into the pathology of hereditary spastic paraplegia, particularly how mutations in multiple, converging pathways can lead to this family of neuropathies.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1974
ISSN: 0022-3050
DOI: 10.1136/jnnp.37.1.8