✦ LIBER ✦

Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia

✍ Scribed by Shin, Jung-Won; Jung, Keun-Hwa; Lee, Soon-Tae; Moon, Jangsup; Seong, Moon-Woo; Park, Sung Sup; Lee, Sang Kun; Chu, Kon

Book ID: 124132786
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 306 KB
Volume: 185
Category: Article
ISSN: 1566-0702
DOI: 10.1016/j.autneu.2014.06.001

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Three novel spastin (SPG4) mutations in

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia

✍ Christos Proukakis; Paul E Hart; Amy Cornish; Thomas T Warner; Andrew H Crosby 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 129 KB

A novel NIPA1 mutation associated with a

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia

✍ Johanna A. Reed; Phillip A. Wilkinson; Heema Patel; Michael A. Simpson; Arnaud C 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 351 KB

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__.

SPG3A mutation screening in English fami

SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia

✍ P.A. Wilkinson; P.E. Hart; H. Patel; T.T. Warner; A.H. Crosby 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 171 KB

A novel missense mutation (I344K) in the

A novel missense mutation (I344K) in theSPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia

✍ C.-S. Ki; W. Y. Lee; D. H. Han; D. H. Sung; K.-B. Lee; K.-A Lee; S. S. Cho; S. C 📂 Article 📅 2002 🏛 Nature Publishing Group 🌐 English ⚖ 88 KB

Mutation analysis of the spastin gene (S

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

✍ S. Sauter; B. Miterski; S. Klimpe; D. Bönsch; L. Schöls; A. Visbeck; T. Papke; H 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 166 KB 👁 1 views

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most co