Ontology highlight
ABSTRACT:
SUBMITTER: Beetz C
PROVIDER: S-EPMC3612678 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Beetz Christian C Johnson Adam A Schuh Amber L AL Thakur Seema S Varga Rita-Eva RE Fothergill Thomas T Hertel Nicole N Bomba-Warczak Ewa E Thiele Holger H Nürnberg Gudrun G Altmüller Janine J Saxena Renu R Chapman Edwin R ER Dent Erik W EW Nürnberg Peter P Audhya Anjon A
Proceedings of the National Academy of Sciences of the United States of America 20130311 13
Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of gait disorders. Their pathological hallmark is a length-dependent distal axonopathy of nerve fibers in the corticospinal tract. Involvement of other neurons can cause additional neurological symptoms, which define a diverse set of complex hereditary spastic paraplegias. We present two siblings who have the unusual combination of early-onset spastic paraplegia, optic atrophy, and neuropathy. Genome-wide SNP-typ ...[more]