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- Title
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.
- Authors
Magariello, A.; Citrigno, L.; Zuchner, S.; Gonzalez, M.; Patitucci, A.; Sofia, V.; Conforti, F. L.; Pappalardo, I.; Mazzei, R.; Ungaro, C.; Zappia, M.; Muglia, M.
- Abstract
The article presents the authors' insights regarding the study on autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSP-TCC) caused by phospholipase DDHD2 gene mutations. The authors say that the patients studied were Italian brothers without consanguinity and showed signs of intellectual disability as well as learning disabilities. They mention that results suggest the phenotypic heterogeneity of autosomal recessive hereditary spastic paraplegia (SPG54).
- Subjects
FAMILIAL spastic paraplegia; GENETIC disorder diagnosis; FAMILIAL diseases; CORPUS callosum abnormalities; COGNITION disorders diagnosis; PHOSPHOLIPASES
- Publication
European Journal of Neurology, 2014, Vol 21, Issue 3, pe25
- ISSN
1351-5101
- Publication type
Article
- DOI
10.1111/ene.12305