Distal hereditary motor neuronopathy of the Jerash type

被引:5
作者
Middleton, LT
Christodoulou, K
Mubaidin, A
Zamba, E
Tsingis, M
Kyriacou, K
Abu-Sheikh, S
Kyriakides, T
Neocleous, V
Georgiou, DM
El-Khateeb, M
Al-Qudah, A
Horany, K
机构
[1] Cyprus Inst Neurol & Genet, CY-1683 Nicosia, Cyprus
[2] King Hussein Med Ctr, Amman, Jordan
[3] Jordan Univ Hosp, Amman, Jordan
来源
CHARCOT-MARIE-TOOTH DISORDERS | 1999年 / 883卷
关键词
D O I
10.1111/j.1749-6632.1999.tb08569.x
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
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.
引用
收藏
页码:65 / 68
页数:4
相关论文
共 12 条
[1]   PATHOLOGICAL INVOLVEMENT OF PRIMARY SENSORY NEURONS IN WERDNIG-HOFFMANN DISEASE [J].
CARPENTER, S ;
KARPATI, G ;
ROTHMAN, S ;
WATTERS, G ;
ANDERMANN, F .
ACTA NEUROPATHOLOGICA, 1978, 42 (02) :91-97
[2]   MAPPING OF A DISTAL FORM OF SPINAL MUSCULAR-ATROPHY WITH UPPER-LIMB PREDOMINANCE TO CHROMOSOME 7P [J].
CHRISTODOULOU, K ;
KYRIAKIDES, T ;
HRISTOVA, AH ;
GEORGIOU, DM ;
KALAYDJIEVA, L ;
YSHPEKOVA, B ;
IVANOVA, T ;
WEBER, JL ;
MIDDLETON, LT .
HUMAN MOLECULAR GENETICS, 1995, 4 (09) :1629-1632
[3]  
CHRISTODOULOU K, 1998, AM J HUM GENET, V63, pA285
[4]   LOWER MOTOR AND PRIMARY SENSORY NEURON DISEASES WITH PERONEAL MUSCULAR ATROPHY .2. NEUROLOGIC GENETIC AND ELECTROPHYSIOLOGIC FINDINGS IN VARIOUS NEURONAL DEGENERATIONS [J].
DYCK, PJ ;
LAMBERT, EH .
ARCHIVES OF NEUROLOGY, 1968, 18 (06) :619-&
[5]  
FREQUIN STF, 1991, CLIN NEUROL NEUROSUR, V19, P323
[6]   X-LINKED RECESSIVE BULBOSPINAL NEURONOPATHY - A REPORT OF 10 CASES [J].
HARDING, AE ;
THOMAS, PK ;
BARAITSER, M ;
BRADBURY, PG ;
MORGANHUGHES, JA ;
PONSFORD, JR .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1982, 45 (11) :1012-1019
[7]  
HARDING AE, 1993, PERIPHERAL NEUROPATH, P1051
[8]   Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D) [J].
Ionasescu, V ;
Searby, C ;
Sheffield, VC ;
Roklina, T ;
Nishimura, D ;
Ionasescu, R .
HUMAN MOLECULAR GENETICS, 1996, 5 (09) :1373-1375
[9]  
KYRIAKIDES T, 1998, ACTA MYOLOG, V2, P55
[10]  
Middleton LT, 1999, NEUROLOGY, V52, pA3