Involvement of Peripheral and Central Nervous Systems in a Valosin-Containing Protein Mutation
Journal of Clinical Neurology
;
: 166-170, 2014.
Article
in English
| WPRIM
| ID: wpr-84606
ABSTRACT
BACKGROUND:
Inclusion-body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD) is a rare, late-onset autosomal disorder arising from missense mutations in a gene coding for valosin-containing protein. CASE REPORT We report the case of a man carrying the previously described p.Arg159His mutation, who had an unusual axonal sensorimotor neuropathy as the first clinical manifestation of IBMPFD, and for whom diagnosis only became clear 8 years later when the patient developed frontotemporal dementia.CONCLUSIONS:
Peripheral neuropathy is a rare manifestation of IBMPFD. This underdiagnosed disorder should be considered when a patient develops dementia or has signs of Paget's disease.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Axons
/
Central Nervous System
/
Genes, vif
/
Peripheral Nervous System Diseases
/
Mutation, Missense
/
Dementia
/
Diagnosis
/
Frontotemporal Dementia
/
Clinical Coding
/
Muscular Diseases
Type of study:
Diagnostic study
Limits:
Humans
Language:
English
Journal:
Journal of Clinical Neurology
Year:
2014
Type:
Article
Similar
MEDLINE
...
LILACS
LIS