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Biomedical subjects

M P Rozear

Publications and source records attributed to M P Rozear.

17 recordsLinked to original sources
PubMed1997

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.

The Charcot-Marie-Tooth (CMT) neuropathies are a group of disorders exhibiting neurophysical, pathological and genetic heterogeneity. CMT2 is a diagnostic subtype of this group of disorders characterized by variable expression and age-of-onset and normal or slightly diminished nerve conduction velocities. Previously, linkage and heterogeneity had been reported in CMT2 with linked families localizing to chromosome 1p (CMT2A). Recently a second CMT2 locus has been described on chromosome 7 in a single large CMT2 family (CMT2D). We have performed pedigree linkage analysis on 15 CMT2 families (N = 371 individuals, 106 affected family members) and have confirmed linkage to chromosome 7. Furthermore, using both admixture and multipoint linkage analysis we show conclusive evidence for additional heterogeneity within this clinical subtype with evidence of families that exclude linkage to both the CMT2D and CMT2A regions. In addition, unlike the previous report we found no obvious consistent clinical differences between the linked family types.

Charcot-Marie-Tooth Disease↗
PubMed1993

Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.

Charcot-Marie-Tooth (CMT) disease type 2 (CMT2) is an inherited peripheral neuropathy characterized by variable age of onset and normal or slightly diminished nerve conduction velocity. CMT2 is pathologically and genetically distinct from CMT type 1 (CMT1). While CMT1 has been shown to be genetically heterogeneous, no chromosomal localization has been established for CMT2. We have performed pedigree linkage analysis in six large autosomal dominant CMT2 families and have demonstrated linkage and heterogeneity to a series of microsatellites (D1S160, D1S170, D1S244, D1S228 and D1S199) in the distal region of the short arm of chromosome 1. Significant evidence for heterogeneity was found using admixture analysis and the two-point lod scores. Admixture analyses using the multipoint results for the markers D1S244, D1S228, and D1S199 supported the two-point findings. Three families, DUK662, DUK1241, and 1523 gave posterior probabilities of 1.0, 0.98, and 0.88 of being of the linked type. Multipoint analysis examining the "linked" families showed that the most favored location for the CMT2A gene is within the interval flanked by D1S244 and D1S228 (odds approximately 70:1 of lying within versus outside that interval). These findings suggest that the CMT2 phenotype is secondary to at least two different genes and demonstrate further heterogeneity in the CMT phenotype.

Adult↗
PubMed1992

Posey palsy.

Explore the source record for details and available documents.

Axillary Vein↗
PubMed1990

Disc space infection: a case report with MRI diagnosis.

Vertebral disc space infection is an uncommon cause of back pain. Physical findings may be unimpressive and laboratory evaluation may only disclose an elevated erythrocyte sedimentation rate. Magnetic resonance imaging is particularly useful, since it reveals abnormalities earlier than plain radiographs and is more precise than bone scan.

Back Pain↗
PubMed1987

Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.

The existence of an X-linked sensorimotor peripheral neuropathy has been debated. We reevaluated the original family, and present data on 13 affected males and 25 obligate or probable heterozygous females, documenting the devastating nature of the disease in the men and the extremely variable degree of clinical involvement in the carriers. Use of DNA probes indicates that the gene lies in the DXYS1-p58-1 region of the X-chromosome.

Adolescent↗
PubMed1987

Occlusion of the basilar artery within a fracture of the clivus. Case report.

Following a 15-foot fall from a roof, a 70-year-old man became comatose and developed signs of pontine dysfunction. There was a severely comminuted fracture of the distal left femur suggesting that he had landed in an upright position. It was clinically unclear whether the fall was secondary to a pontine infarct; however, an autopsy revealed a fracture of the clivus which had entrapped and occluded the basilar artery, causing death. These findings, and those in similar cases, suggest that this entity results from a force transmitted in an axial direction.

Aged↗