Distal hereditary motor neuronopathy of the Jerash type.
A novel form of autosomal recessive distal hereditary motor neuronopathy (distal HMN) is reported. The presence of pyramidal signs within the early stages of the disease with persistence of knee hyperreflexia form distinctive clinical features. We have mapped the HMN-J gene to chromosome 9p21.1-p12, within an estimated interval of 1.2-Mb.
Middleton
L T
LT
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. ltmiddle@mdrtc.cing.ac.cy
Christodoulou
K
K
Mubaidin
A
A
Zamba
E
E
Tsingis
M
M
Kyriacou
K
K
Abu-Sheikh
S
S
Kyriakides
T
T
Neocleous
V
V
Georgiou
D M
DM
el-Khateeb
M
M
al-Qudah
A
A
Horany
K
K
D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D003241:Consanguinity; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000145:classification / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007597:Jordan; D008297:Male; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology