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Further evidence that neurofilament light chain gene mutations can cause Charcot‐Marie‐Tooth disease type 2E
Author(s) -
De Jonghe Peter,
Mersivanova Irina,
Nelis Eva,
Del Favero Jurgen,
Martin JeanJacques,
Van Broeckhoven Christine,
Evgrafov Oleg,
Timmerman Vincent
Publication year - 2001
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(20010201)49:2<245::aid-ana45>3.0.co;2-a
Subject(s) - missense mutation , genetics , mutation , gene , biology , phenotype , degenerative disease , central nervous system disease , neuroscience
A missense mutation in the neurofilament light chain gene ( NEFL, NF‐L ) at chromosome 8p21 was recently reported in a single Charcot‐Marie‐Tooth type 2 family (CMT2). This new CMT2 variant is designated CMT2E. The NEFL gene mutation showed co‐segregation with the disease phenotype and is thus most likely the disease‐causing mutation. However, the possibility that it is a closely linked rare polymorphism can not be ruled out with certainty. We observed a novel NEFL missense mutation in a second CMT family, providing supporting evidence that CMT2E is caused by NEFL gene mutations Ann Neurol 2001;49:245–249