Ontology highlight
ABSTRACT:
SUBMITTER: Camdessanche JP
PROVIDER: S-EPMC3042904 | biostudies-other | 2011
REPOSITORIES: biostudies-other
Orphanet journal of rare diseases 20110205
Patients with TARDBP mutations have so far been classified as ALS, sometimes with frontal lobe dysfunction. A 66-year-old patient progressively developed a severe sensory disorder, followed by a motor disorder, which evolved over nine years. Symptoms started in the left hand and slowly involved the four limbs. Investigations were consistent with a mixed sensory and motor neuronopathy. A heterozygous change from an alanine to a proline at amino acid 382 was identified in exon 6 of the TARDPB gene ...[more]