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Acta Neurologica Belgica

Erschienen in:

09.11.2018 | Original Article

Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia

verfasst von: L. Citrigno, A. Magariello, P. Pugliese, G. Di Palma, F. L. Conforti, A. Petrone, M. Muglia

Erschienen in: Acta Neurologica Belgica | Ausgabe 4/2018

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Abstract

Kinesins are a family of proteins for anterograde transport of the molecules from the neuronal cell body and their impairment has been widely associated with neurodegeneration of the motor neurons. KIF5A gene causes autosomal dominant spastic paraplegia 10, a neurological disorder characterized by spasticity and weakness of the lower limbs (SPG10). We carried out a screening of KIF5A gene in 50 subjects affected by HSP negative to diagnostic test for SPG4, ATL1 and REEP1. We identified a novel variation p.Ile255Met in a 58-year-old man who developed progressive gait disturbance due to spastic paraparesis complicated by axonal neuropathy.

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Titel: Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia
verfasst von: L. Citrigno
A. Magariello
P. Pugliese
G. Di Palma
F. L. Conforti
A. Petrone
M. Muglia
Publikationsdatum: 09.11.2018
Verlag: Springer International Publishing
Erschienen in: Acta Neurologica Belgica / Ausgabe 4/2018
Print ISSN: 0300-9009
Elektronische ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-018-1039-0

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Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia

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