Susceptibility to relapsing-progressive multiple sclerosis is associated with inheritance of genes linked to the variable region of the TcR beta locus: use of affected family-based controls

Article Abstract:

Susceptibility to RP MS is associated with a recessive inheritance of a gene linked to the 3' end of the 2-1 subhaplotype defined by the V beta 8-BamHI as well as V beta 11-BamHI alleles of the TcR beta-chain complex in DRw15- patients. The hypothesis that susceptibility to relapsing-progressive multiple sclerosis (MS) is associated with a gene linked to the TcR beta-chain variable region delimited by the V beta 8-BamHI and V beta 11-BamHI RFLP alleles in DRw15+ MS patients has been tested. Testing was of the contingency-table type using patient data and affected family-based controls from 90 simplex and 31 multiplex British Columbia, Canada, families. Susceptibility to relapsing-remitting (RR) MS was not studied.

Multiple sclerosis

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A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease

Article Abstract:

A global assessment has been made on frequency of suicide, suicide attempts, and psychiatric hospitalization, considered catastrophic events (CEs), after testing for predicting Huntington disease (HD). Questionnaires were sent to centers for this type of testing. Responses showed 44 people in 4,527 test participants had CEs, 5 being successful suicides, 21 being suicide attempts, and 18 being hospitalized for psychiatric reasons. Ongoing support may be beneficial for those to whom predictive-testing results are given.

United Kingdom, World, Psychological aspects, Usage, Prevention, Statistics, Suicide, Depression, Mental, Depression (Mood disorder), Chromosome mapping, Huntington's chorea, Huntington's disease, Genetic counseling

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The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G (sub 3097) --> T transversion in NPC1

Article Abstract:

A point mutation within a gene has been identified as showing complete linkage disequilibrium with Niemann-Pick type D (NPD) disease, confirming that NPD is an allelic variant of NPC1. The disease is a progressive neurodegenerative disorder characterized by accumulation of sphingomyelin and tissue cholesterol. and is relatively common in southwestern Nova Scotia caused by a founder effect. The critical gene region has been found to be a D18S40-D18S66 chromosome segment.

Health aspects, Research, Nervous system, Cholesterol, Human population genetics, Nerve degeneration, Nova Scotia

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