Abstract
Hereditary motor and sensory neuropathy type Lom, initially identified in Roma (Gypsy) families from Bulgaria, has been mapped to 8q24. Further refined mapping of the region has been undertaken on DNA from patients diagnosed across Europe. The refined map consists of 25 microsatellite markers over approximately 3 cM. In this collaborative study we have identified a number of historical recombinations resulting from the spread of the hereditary motor and sensory neuropathy type Lom gene through Europe with the migration and isolation of Gypsy groups. Recombination mapping and the minimal region of homozygosity reduced the original 3 cM hereditary motor and sensory neuropathy type Lom region to a critical interval of about 200 kb.
Highlights
Hereditary motor and sensory neuropathy type Lom (HMSNL) is a novel autosomal recessive demyelinating neuropathy associated with deafness, which was initially identi®ed in Roma (Gypsy) families from Bulgaria [1,2]
The investigation of a large number of patients from different countries has demonstrated that hereditary motor and sensory neuropathy type Lom presents with a consistent phenotype allowing the establishment of speci®c diagnostic criteria
Apart from the early onset and marked reduction of motor nerve conduction velocities, the manifestation that allows the clinical distinction of HMSNL from other autosomal recessive demyelinating peripheral neuropathies is the development of deafness in the second or third decade of life
Summary
Hereditary motor and sensory neuropathy type Lom (HMSNL) is a novel autosomal recessive demyelinating neuropathy associated with deafness, which was initially identi®ed in Roma (Gypsy) families from Bulgaria [1,2]. The conserved polymorphic haplotypes on 8q24, shared by all disease chromosomes in the original group of affected families, suggested genetic homogeneity and homozygosity for a single founder mutation. D. Chandler et al / Neuromuscular Disorders 10 (2000) 584±591 different countries across Europe, suggesting that HMSNL is probably the most common single autosomal recessive peripheral neuropathy. The neuropathological features include a very early and severe axonal loss [1,3±7] pointing to HMSNL as a model disorder whose genetic and pathophysiological mechanisms may be relevant to understanding the general causes of disability in demyelinating peripheral neuropathies. Since neural deafness is an invariable symptom of HMSNL, the identi®cation of the molecular basis of the disease will contribute to disentangling the complexity of factors involved in hearing loss
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