Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy

Distal hereditary motor neuronopathy is a genetically and clinically heterogeneous disorder. To date, five loci, and their relative genes, have been mapped on chromosomes 7p14, 7q11, 9q34, 11q12 and 12q24, respectively. We describe an Italian family with autosomal dominant distal HMN starting at aro...

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Bibliographic Details
Published in:	Neuromuscular disorders : NMD Vol. 14; no. 11; pp. 705 - 710
Main Authors:	Passamonti, Luca, Muglia, Maria, Magariello, Angela, Bellesi, Michele, Conforti, Francesca Luisa, Mazzei, Rosalucia, Patitucci, Alessandra, Gabriele, Anna Lia, Sprovieri, Teresa, Peluso, Giuseppina, Caracciolo, Manuela, Medici, Emanuele, Logullo, Francesco, Provinciali, Leandro, Quattrone, Aldo
Format:	Journal Article
Language:	English
Published:	England 01-11-2004
Subjects:	Adult Age of Onset Aged Chromosome Mapping - methods Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 7 DNA Mutational Analysis - methods Family Health Female Genetic Heterogeneity Genetic Linkage - physiology Hereditary Sensory and Motor Neuropathy - genetics Hereditary Sensory and Motor Neuropathy - physiopathology Humans Lod Score Male Middle Aged Neural Conduction - genetics Pedigree Peripheral Nerves - physiopathology Reverse Transcriptase Polymerase Chain Reaction - methods RNA, Messenger - biosynthesis
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Summary:	Distal hereditary motor neuronopathy is a genetically and clinically heterogeneous disorder. To date, five loci, and their relative genes, have been mapped on chromosomes 7p14, 7q11, 9q34, 11q12 and 12q24, respectively. We describe an Italian family with autosomal dominant distal HMN starting at around 30 years of age with weakness and atrophy of distal leg muscles and pyramidal features. We performed genetic linkage analysis on chromosomes 7p14, 9q34, 11q12 and 12q24. Moreover we sequenced the genes mapped to 7q11 and 12q24. Negative LOD scores excluded linkage to 7p14, 9q34, and 11q12 chromosomes in our family. No mutations were found in genes mapped to 7q11 and 12q24. In addition, because of pyramidal features, we performed the linkage analysis to all the known loci for autosomal dominant hereditary spastic paraparesis. The analysis was negative thus excluding a complicated form of autosomal dominant hereditary spastic paraparesis. These data further confirm a genetic heterogeneity within inherited motor neuronopathy.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0960-8966
DOI:	10.1016/j.nmd.2004.07.004