Genetic mutation analysis of hereditary spastic paraplegia
نویسندگان
چکیده
منابع مشابه
Hereditary spastic paraplegia.
Hereditary spastic paraplegia (HSP) or Strümpell-Lorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4.3 to 9.6 cases per 100,000 population. A common feature of these disorders is the slowly progressive and often severe spasticity, noticeably especially in the low limbs. Conventionally, HSP is divided into two clinical groups, uncomplicated (pure spast...
متن کاملHereditary Spastic Paraplegia.
111 families, and Paskind and Stone (1933) also summarized the literature with accounts of another 36 reports from 40 families. Since then about 50 further reports have appeared, covering some 60 families, bringing the total so far to 176 reports of 215 families. Of these the majority have originated in Germany or elsewhere in Europe, but with a substantial number from the Americas. In Britain,...
متن کاملACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
Objective To identify the clinical characteristics and genetic etiology of a family affected with hereditary spastic paraplegia (HSP). Methods Clinical, genetic, and functional analyses involving genome-wide linkage coupled to whole-exome sequencing in a consanguineous family with complicated HSP. Results A homozygous missense mutation was identified in the ACO2 gene (c.1240T>G p.Phe414Val)...
متن کاملSPG20 mutation in three siblings with familial hereditary spastic paraplegia
Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by deleterious mutations in the SPG20 gene, encoding spartin, on Chromosome 13q13. Until now, six un...
متن کاملDe novo REEP2 missense mutation in pure hereditary spastic paraplegia
Alterations in proteins that regulate endoplasmic reticulum morphology are common causes of hereditary spastic paraplegia (SPG1-78, plus others). Mutations in the REEP1 gene that encodes an endoplasmic reticulum-shaping protein are well-known causes of SPG31, a common autosomal dominant spastic paraplegia. A closely-related gene, REEP2, is mutated in SPG72, with both autosomal and recessive inh...
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: Medicine
سال: 2020
ISSN: 0025-7974,1536-5964
DOI: 10.1097/md.0000000000020193