Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11

Article Abstract:

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) are discussed. Excess shared Homozygosity has been found in chromosome region 13q11 in patients with a genomewide scan of 12 families. Very tight links were found from the (ARSACS) locus to an intragenic polymorphism of the gamma-sarcoglycan gene (SGCG). Genomic DNA sequence analysis of the eight SGCG exons found no disease-causing mutation. Two groups of ARSACS-associated haplotypes have been identified, but they seem not to be closely related. The two mutations may be independent in origin even though chromosomes in each haplotype group may have one ARSACS mutation identical by descent. ARSACS is a clinically homogeneous form of early-onset familial spastic ataxia with prominent myelinated retinal nerve fibers. More than 300 patients have been found, most with families originating in the Charlevoix-Saguenay region in Quebec, Canada.

France, Abnormalities, Nervous system, Neuromuscular diseases, Retina, Nerve degeneration, Spasticity, Charlevoix, Quebec

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Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy

Article Abstract:

Neural networks can be helpful in determining disease status. Comparison of clinical diagnosis to neural-network predictions has been carried out using a pedigree with autosomal dominant limb-girdle muscular dystrophy (LGMD1A) and the network reproduced the disease diagnosis of all those of known phenotype with 98% reliability. Genetics of some inherited diseases make diagnosis for even single-locus traits difficult. Variability in age at onset, diagnostic criteria, and differential presentation of disease make LGMD1A diagnosis difficult. Appropriate choice of clinical factors for determination of disease status has been defined.

United States, Computer networks, Software, Diagnosis, Neural networks, Artificial intelligence

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A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

Article Abstract:

Linkage between the limb-girdle muscular dystrophy (LGMD) locus and D9S302 has been established. The marker is in the chromosomal region in which the gene that causes Fukuyama congenital muscular dystrophy (FCMD) is found. A genome scan was carried out using pooled DNA from a large Hutterite family in Manitoba. Those affected have a mild type of autosomal recessive LGMD. More than one gene seems to be involved with LGMD. The second gene could be named LGMD2H. Limb-girdle muscular dystrophies are a group of clinical disorders involving proximal muscle wasting and weakness.

Hutterian Brethren, Manitoba

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