TY - JOUR
T1 - A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12
AU - Christodoulou, Kyproula
AU - Zamba, Eleni
AU - Tsingis, Marios
AU - Mubaidin, Amar
AU - Horani, Khalid
AU - Abu-Sheik, Salem
AU - El-Khateeb, Mohammed
AU - Kyriacou, Kyriacos
AU - Kyriakides, Theodoros
AU - Al-Qudah, Abdel Karim
AU - Middleton, Lefkos
PY - 2000
Y1 - 2000
N2 - Distal hereditary motor neuronopathies (dHMNs) form a heterogeneous group of rare disorders characterized by distal weakness and wasting in the limbs with no significant sensory involvement. Harding has classified dHMNs into seven categories based on clinical and genetic criteria. We report a novel form of autosomal recessive dHMN in 7 consanguineous families located in the Jerash region of Jordan. Onset of the disease is between 6 and 10 years of age and is characterized by weakness and atrophy of the lower limbs associated with pyramidal features. Within 2 years, symptoms progress to the upper limbs. Neurophysiological studies typically show normal conduction velocities, reduced compound motor action potential amplitudes, normal sensory nerve action potentials, and chronic neurogenic changes on needle electromyography. No significant abnormalities are seen on sural nerve biopsy. We call this novel form of dHMN Jerash hereditary motor neuronopathy. We studied the families at the molecular genetic level and mapped the Jerash hereditary motor neuronopathy gene to an approximately 0.54-cM region on chromosome 9p21.1-p12, flanked by microsatellite polymorphic marker loci D9S1845 and D9S1791. A maximum LOD score of 19.80 at θ = 0.001 was obtained between the disease and locus D9S1878.
AB - Distal hereditary motor neuronopathies (dHMNs) form a heterogeneous group of rare disorders characterized by distal weakness and wasting in the limbs with no significant sensory involvement. Harding has classified dHMNs into seven categories based on clinical and genetic criteria. We report a novel form of autosomal recessive dHMN in 7 consanguineous families located in the Jerash region of Jordan. Onset of the disease is between 6 and 10 years of age and is characterized by weakness and atrophy of the lower limbs associated with pyramidal features. Within 2 years, symptoms progress to the upper limbs. Neurophysiological studies typically show normal conduction velocities, reduced compound motor action potential amplitudes, normal sensory nerve action potentials, and chronic neurogenic changes on needle electromyography. No significant abnormalities are seen on sural nerve biopsy. We call this novel form of dHMN Jerash hereditary motor neuronopathy. We studied the families at the molecular genetic level and mapped the Jerash hereditary motor neuronopathy gene to an approximately 0.54-cM region on chromosome 9p21.1-p12, flanked by microsatellite polymorphic marker loci D9S1845 and D9S1791. A maximum LOD score of 19.80 at θ = 0.001 was obtained between the disease and locus D9S1878.
UR - http://www.scopus.com/inward/record.url?scp=0033669436&partnerID=8YFLogxK
U2 - 10.1002/1531-8249(200012)48:6<877::AID-ANA8>3.0.CO;2-#
DO - 10.1002/1531-8249(200012)48:6<877::AID-ANA8>3.0.CO;2-#
M3 - Article
C2 - 11117544
SN - 0364-5134
VL - 48
SP - 877
EP - 884
JO - Annals of Neurology
JF - Annals of Neurology
IS - 6
ER -