Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Ivanova, N; Claeys, KG; Deconinck, T; Litvinenko, I; Jordanova, A; Auer-Grumbach, M; Haberlova, J; Löfgren, A; Smeyers, G; Nelis, E; Mercelis, R; Plecko, B; Priller, J; Zámecník, J; Ceulemans, B; Erichsen, AK; Björck, E; Nicholson, G; Sereda, MW; Seeman, P; Kremensky, I; Mitev, V; De Jonghe, P.
Hereditary spastic paraplegia 3A associated with axonal neuropathy.
Arch Neurol. 2007; 64(5):706-713
Doi: 10.1001/archneur.64.5.706
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
- Co-Autor*innen der Med Uni Graz
- Auer-Grumbach Michaela
- Plecko Barbara
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- Abstract:
- To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia. We screened a large cohort of 182 families and isolated cases with pure or complex hereditary spastic paraplegia phenotypes, which were negative for mutations in SPG4. In 12 probands (6.6%), we identified 12 different SPG3A mutations (11 missense and 1 insertion/frameshift) of which 7 were novel and 3 were de novo. We found incomplete penetrance in 1 family (G482V). In most cases, SPG3A mutations were associated with an early age at onset (mean, 3 y); however, in 1 family (R495W mutation), symptoms started later (mean, 14 y) with clear intrafamilial variability (8-28 y). Six patients with an SPG3A mutation (F151S, Q191R, M408T, G469A, R495W) originating from 5 unrelated families presented with a complex form of hereditary spastic paraplegia associated with a neuropathy (17%). Our electrophysiological and pathological findings confirmed an axonal sensory-motor neuropathy. There was no correlation between the genotype and the presence of a neuropathy. We conclude that mutations in SPG3A represent an important cause of patients in the overall hereditary spastic paraplegia population. SPG3A is more often associated with a neuropathy than previously assumed. Therefore, patients with a bipyramidal syndrome and a neuropathy should be screened for mutations in SPG3A.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Age of Onset -
- Aged -
- Amides -
- Aminobutyrates -
- Butyrates -
- Child -
- Cohort Studies -
- DNA Mutational Analysis -
- Family Health -
- Female -
- Genetic Predisposition to Disease -
- Humans -
- Male -
- Membrane Proteins - genetics
- Middle Aged -
- Mutation -
- Polyneuropathies - complications
- Polyneuropathies - genetics
- Polyneuropathies - pathology
- Spastic Paraplegia, Hereditary - complications
- Spastic Paraplegia, Hereditary - genetics
- Spastic Paraplegia, Hereditary - pathology
- Vesicular Transport Proteins - genetics