✦ LIBER ✦

Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

✍ Scribed by Satoshi Kaneko; Toshitaka Kawarai; Edwin Yip; Shabnam Salehi-Rad; Christine Sato; Antonio Orlacchio; Giorgio Bernardi; Yan Liang; Hiroshi Hasegawa; Ekaterina Rogaeva; Peter St George-Hyslop

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 98 KB
Volume: 21
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21005

No coin nor oath required. For personal study only.

✦ Synopsis

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. © 2006 Movement Disorder Society

📜 SIMILAR VOLUMES

Novel mutations in the Atlastin gene (SP

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

✍ S.M. Sauter; W. Engel; L.M. Neumann; J. Kunze; J. Neesen 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB 👁 1 views

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-2

Genetic anticipation in a large family w

Genetic anticipation in a large family with pure autosomal dominant hereditary spastic paraplegia

✍ Thurmon, T.F.; He, Ching; Haskell, Carroll; Thorpe, Patricia; Thurmon, S.G.; Ros 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 2 views

We have reinvestigated a large kindred identified over 25 years ago segregating for a form of pure autosomal dominant hereditary spastic paraplegia (HSP). We have examined additional relatives in order to refine the clinical and genetic characteristics of this disorder, and performed an analysis to

Autosomal dominant hereditary spastic pa

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

✍ Clarice Patrono; Valentina Scarano; Federica Cricchi; Mariarosa A. B. Melone; Ma 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 134 KB 👁 1 views

We set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen patients with autosomal dominant hereditary spastic paraplegia (AD-HSP) for mutations in SPG4. Six patients had a complicated form and 49 a pure HSP phenotype. We also analyzed 19 unrelated patients pr

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

Novel mutation of SACS gene in a Spanish

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

✍ Chiara Criscuolo; Francesco Saccà; Giuseppe De Michele; Pietro Mancini; Onofre C 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 215 KB

## Abstract Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early‐onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We repor

Clinical phenotype of autosomal dominant

Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene

✍ Daojun Hong; Hongyan Bi; Sheng Yao; Zhaoxia Wang; Yun Yuan 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 268 KB

## Abstract Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disorder caused by mutations in nuclear genes. Here we report the clinical and genetic features of adPEO in a Chinese family. All patients had gradual onset of ptosis, with or without ophthalmoplegia, aro