Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

Logo MUG-Forschungsportal

Gewählte Publikation:

SHR Neuro Krebs Kardio Lipid

Schule, R; Kremer, BPH; Kassubek, J; Auer-Grumbach, M; Kostic, V; Klopstock, T; Klimpe, S; Otto, S; Boesch, S; van de Warrenburg, BP; Schols, L.
SPG10 is a rare cause of spastic paraplegia in European families.
J Neurol Neurosurg Psychiatry. 2008; 79(5):584-587
Web of Science PubMed FullText FullText_MUG Google Scholar

 

Autor/innen der Med Uni Graz:
Auer-Grumbach Michaela
Altmetrics:

Dimensions Citations:

Plum Analytics:
Abstract:
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.
Find related publications in this database (using NLM MeSH Indexing)
Adult -
Age of Onset -
Child -
Child, Preschool -
Chromosome Aberrations -
Chromosome Deletion -
DNA Mutational Analysis -
Europe -
Exons - genetics
Female -
Frameshift Mutation -
Gait Disorders, Neurologic - diagnosis
Genes, Dominant - genetics
Genetics, Population -
Genotype -
Humans -
Kinesin -
Male -
Middle Aged -
Mutation, Missense -
Neurologic Examination -
Pedigree -
Phenotype -
RNA Splice Sites - genetics
Sequence Analysis, DNA -
Spastic Paraplegia, Hereditary - diagnosis

© Meduni Graz Impressum