A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.

Gabriella Silvestri; Marcella Masciullo

doi:10.1007/s00415-008-0840-8

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.

Gabriella Silvestri
, Marcella Masciullo

Research output: Contribution to journal › Article

25 Citations (Scopus)

Abstract

Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative diseases characterized by progressive spasticity of the lower limbs – either in isolation (“pure” forms) or associated with an array of additional features (“complicated” forms) –, and great genetic heterogeneity – sustained by the identification of > 35 loci, of which 15 have been described in autosomal dominant (AD) kindred

Original language	English
Pages (from-to)	1090-1092
Number of pages	3
Journal	Journal of Neurology
DOIs	https://doi.org/10.1007/s00415-008-0840-8
Publication status	Published - 2008

Keywords

KIF5A
SPG10

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10.1007/s00415-008-0840-8

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title = "A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.",

abstract = "Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative diseases characterized by progressive spasticity of the lower limbs – either in isolation (“pure” forms) or associated with an array of additional features (“complicated” forms) –, and great genetic heterogeneity – sustained by the identification of > 35 loci, of which 15 have been described in autosomal dominant (AD) kindred",

keywords = "KIF5A, SPG10, KIF5A, SPG10",

author = "Gabriella Silvestri and Marcella Masciullo",

year = "2008",

doi = "10.1007/s00415-008-0840-8",

language = "English",

pages = "1090--1092",

journal = "Journal of Neurology",

issn = "0340-5354",

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T1 - A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.

AU - Silvestri, Gabriella

AU - Masciullo, Marcella

PY - 2008

Y1 - 2008

N2 - Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative diseases characterized by progressive spasticity of the lower limbs – either in isolation (“pure” forms) or associated with an array of additional features (“complicated” forms) –, and great genetic heterogeneity – sustained by the identification of > 35 loci, of which 15 have been described in autosomal dominant (AD) kindred

AB - Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative diseases characterized by progressive spasticity of the lower limbs – either in isolation (“pure” forms) or associated with an array of additional features (“complicated” forms) –, and great genetic heterogeneity – sustained by the identification of > 35 loci, of which 15 have been described in autosomal dominant (AD) kindred

KW - KIF5A

KW - SPG10

KW - KIF5A

KW - SPG10

UR - http://hdl.handle.net/10807/31877

U2 - 10.1007/s00415-008-0840-8

DO - 10.1007/s00415-008-0840-8

M3 - Article

SN - 0340-5354

SP - 1090

EP - 1092

JO - Journal of Neurology

JF - Journal of Neurology

ER -

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.

Abstract

Keywords

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