Yayınlanmış 1 Ocak 2020
| Sürüm v1
Dergi makalesi
Açık
Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey
Oluşturanlar
- 1. Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey
- 2. Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey
Açıklama
Objectives. Hereditary spastic paraplegias (HSPs) are a heterogenous group of rare neurodegenerative disorders that present with lower limb spasticity. It is known as complicated HSP if spasticity is accompanied by additional features such as cognitive impairment, cerebellar syndrome, thin corpus callosum, or neuropathy. Most HSP families show autosomal dominant (AD) inheritance. On the other hand, autosomal recessive (AR) cases are also common because of the high frequency of consanguineous marriages in our country. This study aimed to investigate the clinical and genetic aetiology in a group of HSP patients.
Dosyalar
bib-ffb53a6c-b91b-495b-a6ba-b5e5c653924f.txt
Dosyalar
(223 Bytes)
| Ad | Boyut | Hepisini indir |
|---|---|---|
|
md5:574184e96066e8925fef45bb2407b34e
|
223 Bytes | Ön İzleme İndir |