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,...

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Veröffentlicht in:	Annals of the New York Academy of Sciences 1999-10, Vol.883 (1), p.65-68
Hauptverfasser:	MIDDLETON, L. T., CHRISTODOULOU, K., MUBAIDIN, A., ZAMBA, E., TSINGIS, M., KYRIACOU, K., ABU-SHEIKH, S., KYRIAKIDES, T., NEOCLEOUS, V., GEORGIOU, D. M., EL-KHATEEB, M., AL-QUDAN, A., HORANY, K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Chromosome Mapping Chromosomes, Human, Pair 9 Consanguinity Female Hereditary Sensory and Motor Neuropathy - classification Hereditary Sensory and Motor Neuropathy - genetics Hereditary Sensory and Motor Neuropathy - pathology Hereditary Sensory and Motor Neuropathy - physiopathology Humans Jordan Male Pedigree Sural Nerve - pathology
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Beschreibung
Zusammenfassung:	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.
ISSN:	0077-8923 1749-6632
DOI:	10.1111/j.1749-6632.1999.tb08569.x