Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
Ann Clin Transl Neurol
; 8(2): 471-476, 2021 02.
Article
in En
| MEDLINE
| ID: mdl-33405357
ABSTRACT
We describe the clinical, electrodiagnostic, and genetic findings of three homozygous FIG4-c.122T>C patients suffering from Charcot-Marie-Tooth disease type 4J (AR-CMT-FIG4). This syndrome usually involves compound heterozygosity associating FIG4-c.122T>C, a hypomorphic allele coding an unstable FIG4-p.Ile41Thr protein, and a null allele. While the compound heterozygous patients presenting with early onset usually show rapid progression, the homozygous patients described here show the signs of relative clinical stability. As FIG4 activity is known to be dose dependent, these patients' observations could suggest that the therapeutic perspective of increasing levels of the protein to improve the phenotype of AR-CMT-FIG4-patients might be efficient.
Full text:
1
Database:
MEDLINE
Main subject:
Charcot-Marie-Tooth Disease
/
Demyelinating Diseases
/
Phosphoric Monoester Hydrolases
/
Intracellular Signaling Peptides and Proteins
/
Flavoproteins
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Adult
/
Humans
/
Male
Language:
En
Journal:
Ann Clin Transl Neurol
Year:
2021
Type:
Article
Affiliation country:
France