Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

被引：76

作者：

Fichera, M

Lo Giudice, M

Falco, M

Sturnio, M

Amata, S

Calabrese, O

Bigoni, S

Calzolari, E

Neri, M

机构：

[1] IRCCS Oasi Maria SS, Lab Diag Genet, I-94018 Troina, EN, Italy

[2] Univ Ferrara, Dept Expt Med & Diagnost, Med Genet Serv, I-44100 Ferrara, Italy

来源：

NEUROLOGY | 2004年 / 63卷 / 06期

关键词：

D O I：

10.1212/01.WNL.0000138731.60693.D2

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Hereditary spastic paraplegias (HSPs) are characterized by progressive lower extremity spasticity due to an axonal degeneration of motor and sensory neurons. We report a four-generation pedigree segregating an autosomal dominant phenotype for HSP and showing a linkage to the SPG10 locus, coding for Kinesin family member 5A. Subsequent to a denaturing high performance liquid chromatography (dHPLC) mutation screening we found a new missense mutation 838C> T (R280C) at an invariant arginine residue in a region involved in the microtubule binding activity.

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页码：1108 / 1110

页数：3

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