𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)

✍ Scribed by Naima Bouslam; Ali Benomar; Hamid Azzedine; Ahmed Bouhouche; Michito Namekawa; Stephan Klebe; Céline Charon; Alexandra Durr; Merle Ruberg; Alexis Brice; Mohamed Yahyaoui; Giovanni Stevanin

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
210 KB
Volume
57
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Complicated forms of autosomal dominant
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10
✍ Cyril Goizet; Amir Boukhris; Emeline Mundwiller; Chantal Tallaksen; Sylvie Forla 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 176 KB

## Communicated by Mireille Claustres Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower extremities. Only a few different mutations in the SPG10 gene, KIF5A, have been described in pure d

Extensive genetic heterogeneity in the “
Extensive genetic heterogeneity in the “pure” form of autosomal dominant familial spastic paraplegia (Strümpell's disease)
✍ Hisashi Kobayashi; Carlos A. Garcia; Puei-Nam Tay; Eric P. Hoffman 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 312 KB 👁 2 views

Three dominantly inherited "pure" form of familial spastic paraplegia (FSP) genes have been genetically mapped to regions of chromosomes, yet no specific genes or mutations have been identified (FSPI ; chromosome 14q, FSP2; chromosome 2p and FSP3; chromosome 15q). We studied a "pure" form of autosom

Novel SPG6 mutation p.A100T in a Japanes
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
✍ Satoshi Kaneko; Toshitaka Kawarai; Edwin Yip; Shabnam Salehi-Rad; Christine Sato 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 98 KB

## Abstract We describe a Japanese family in which inheritance of a novel mutation p.A100T in __SPG6__ resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of __SPG6__.

Mutation of FA2H underlies a complicated
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)
✍ Katherine J. Dick; Matthias Eckhardt; Coro Paisán-Ruiz; Aisha Alkhayat Alshehhi; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 563 KB

Hereditary spastic paraplegia (HSP) describes a heterogeneous group of inherited neurodegenerative disorders in which the cardinal pathological feature is upper motor neurone degeneration leading to progressive spasticity and weakness of the lower limbs. Using samples from a large Omani family we re

Brazilian family with pure autosomal dom
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin
✍ Rocco, P. ;Vainzof, M. ;Froehner, S.C. ;Peters, M.F. ;Marie, S.K.N. ;Passos-Buen 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 1 views

The autosomal dominant hereditary spastic paraplegias (AD-HSP) are a heterogeneous group of degenerative disorders of the central motor system, characterized by progressive spasticity of the lower limbs. Five loci for pure AD-HSP have been identified to date: SPG3 at 14q, SPG4 at 2p, SPG6 at 15q, SP