Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma.
OBJECTIVE
We describe three patients from a family with motor and sensory neuropathy accompanied by open-angle glaucoma.


BACKGROUND
Autosomal recessive demyelinating hereditary motor and sensory neuropathies (HMSN) include different disorders. To our knowledge, autosomal recessive HMSN has not been associated with juvenile onset glaucoma.


METHODS
Sural nerve pathology of the three patients were examined, and genetic analysis of the family was performed.


RESULTS
- The most prominent pathologic finding was a highly unusual myelin abnormality consisting of irregular redundant loops and folding of the myelin sheath. The family survey supports autosomal recessive inheritance. The molecular analysis failed to demonstrate either linkage of the disease to MPZ gene, PMP22 gene, Cx32 gene, orEGR2 gene. Analysis did not establish linkage of the disease to the locus of CMT4A, 4B, and 4C genes.


CONCLUSIONS
The present cases may represent a new type of HMSN accompanied by juvenile onset glaucoma.
Third Department of Internal Medicine, Kagoshima University School of Medicine, Sakuragaoka, Japan.
T
T
Kiwaki
F
F
Umehara
H
H
Takashima
M
M
Nakagawa
K
K
Kamimura
N
N
Kashio
Y
Y
Sakamoto
K
K
Unoki
Y
Y
Nobuhara
K
K
Michizono
O
O
Watanabe
H
H
Arimura
M
M
Osame
D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005902:Glaucoma, Open-Angle / Q000150:complications* / Q000235:genetics / Q000473:pathology; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007564:Japan; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009186:Myelin Sheath / Q000737:chemistry* / Q000235:genetics / Q000473:pathology / Q000648:ultrastructure; D010375:Pedigree; D017510:Protein Folding; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure