Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0003635 (
apraxia
)
2,817
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
SQSTM1
mutations, coding for the p62 protein, were identified as a monogenic cause of Paget disease of bone and of amyotrophic lateral sclerosis. More recently,
SQSTM1
mutations were identified in few families with frontotemporal dementia. We report a new family carrying
SQSTM1
mutation and presenting with a clinical phenotype of speech
apraxia
or atypical behavioral disorders, associated with early visuo-contructional deficits. This study further supports the implication of
SQSTM1
in frontotemporal dementia, and enlarges the phenotypic spectrum associated with
SQSTM1
mutations.
...
PMID:A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 2511 83
