RGD Reference Report - SPG10 is a rare cause of spastic paraplegia in European families. - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

SPG10 is a rare cause of spastic paraplegia in European families.

Authors: Schüle, R  Kremer, B P H  Kassubek, J  Auer-Grumbach, M  Kostic, V  Klopstock, T  Klimpe, S  Otto, S  Boesch, S  van de Warrenburg, B P  Schöls, L 
Citation: Schüle R, etal., J Neurol Neurosurg Psychiatry. 2008 May;79(5):584-7. doi: 10.1136/jnnp.2007.137596. Epub 2008 Feb 1.
RGD ID: 12793061
Pubmed: (View Article at PubMed) PMID:18245137
DOI: Full-text: DOI:10.1136/jnnp.2007.137596

BACKGROUND: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date.
OBJECTIVE: To determine the frequency of SPG10 in European families with HSP and to specify the SPG10 phenotype.
PATIENTS AND METHODS: 80 index patients from families with autosomal dominant HSP were investigated for SPG10 mutations by direct sequencing of the KIF5A motor domain. Additionally, the whole gene was sequenced in 20 of these families.
RESULTS: Three novel KIF5A mutations were detected in German families, including one missense mutation (c.759G>T, p.K253N), one in frame deletion (c.768_770delCAA, p.N256del) and one splice site mutation (c.217G>A). Onset of gait disturbance varied from infancy to 30 years of age. All patients presented clinically with pure HSP, but a subclinical sensory-motor neuropathy was detected by neurophysiology studies.
CONCLUSIONS: SPG10 accounts for approximately 3% of European autosomal dominant HSP families. All mutations affect the motor domain of kinesin and thus most likely impair axonal transport. Clinically, SPG10 is characterised by spastic paraplegia with mostly subclinical peripheral neuropathy.


Disease Annotations    

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Kif5a  (kinesin family member 5A)

Genes (Mus musculus)
Kif5a  (kinesin family member 5A)

Genes (Homo sapiens)
KIF5A  (kinesin family member 5A)

Additional Information