Abstract
Charcot-Marie-Tooth disease (CMT), the most common inherited peripheral neuropathy, is a progressive sensorimotor neuropathy divided into types 1 and 2 based upon electrophysiologic and neuropathologic differences. The more common autosomal dominant form of CMT type 1 (hereditary motor and sensory neuropathy type I) is genetically heterogeneous, with genes located on chromosomes 1 (type 1B) or 17 (type IA). However, no locus for CMT type 2 is known. We have performed linkage studies on three large multigenerational CMT type 2 families using probes from chromosome 1 and chromosome 17, which span their respective linkage regions. Multipoint analysis of the chromosome 17 markers excluded linkage over an area of 45 cM-15 cM proximal and 30 cM distal to the region containing CMT type 1A. Multipoint analysis of the chromosome 1 markers exclude linkage 15 cM proximal and 20 cM distal to FC-gamma-RII in the region of CMT IB. These data indicate that CMT type 2 is genetically distinct from CMT type 1.
| Original language | English |
|---|---|
| Pages (from-to) | 597-601 |
| Number of pages | 5 |
| Journal | Neurology |
| Volume | 42 |
| Issue number | 3 |
| State | Published - Mar 1 1992 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Neuroscience(all)
Cite this
Linkage studies in Charcot-Marie-Tooth disease type 2 : Evidence that CMT types 1 and 2 are distinct genetic entities. / Loprest, L. J.; Pericak-Vance, Margaret A; Stajich, J.; Gaskell, P. C.; Lucas, A. M.; Lennon, F.; Yamaoka, L. H.; Roses, A. D.; Vance, Jeffery M.
In: Neurology, Vol. 42, No. 3, 01.03.1992, p. 597-601.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Linkage studies in Charcot-Marie-Tooth disease type 2
T2 - Evidence that CMT types 1 and 2 are distinct genetic entities
AU - Loprest, L. J.
AU - Pericak-Vance, Margaret A
AU - Stajich, J.
AU - Gaskell, P. C.
AU - Lucas, A. M.
AU - Lennon, F.
AU - Yamaoka, L. H.
AU - Roses, A. D.
AU - Vance, Jeffery M
PY - 1992/3/1
Y1 - 1992/3/1
N2 - Charcot-Marie-Tooth disease (CMT), the most common inherited peripheral neuropathy, is a progressive sensorimotor neuropathy divided into types 1 and 2 based upon electrophysiologic and neuropathologic differences. The more common autosomal dominant form of CMT type 1 (hereditary motor and sensory neuropathy type I) is genetically heterogeneous, with genes located on chromosomes 1 (type 1B) or 17 (type IA). However, no locus for CMT type 2 is known. We have performed linkage studies on three large multigenerational CMT type 2 families using probes from chromosome 1 and chromosome 17, which span their respective linkage regions. Multipoint analysis of the chromosome 17 markers excluded linkage over an area of 45 cM-15 cM proximal and 30 cM distal to the region containing CMT type 1A. Multipoint analysis of the chromosome 1 markers exclude linkage 15 cM proximal and 20 cM distal to FC-gamma-RII in the region of CMT IB. These data indicate that CMT type 2 is genetically distinct from CMT type 1.
AB - Charcot-Marie-Tooth disease (CMT), the most common inherited peripheral neuropathy, is a progressive sensorimotor neuropathy divided into types 1 and 2 based upon electrophysiologic and neuropathologic differences. The more common autosomal dominant form of CMT type 1 (hereditary motor and sensory neuropathy type I) is genetically heterogeneous, with genes located on chromosomes 1 (type 1B) or 17 (type IA). However, no locus for CMT type 2 is known. We have performed linkage studies on three large multigenerational CMT type 2 families using probes from chromosome 1 and chromosome 17, which span their respective linkage regions. Multipoint analysis of the chromosome 17 markers excluded linkage over an area of 45 cM-15 cM proximal and 30 cM distal to the region containing CMT type 1A. Multipoint analysis of the chromosome 1 markers exclude linkage 15 cM proximal and 20 cM distal to FC-gamma-RII in the region of CMT IB. These data indicate that CMT type 2 is genetically distinct from CMT type 1.
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M3 - Article
VL - 42
SP - 597
EP - 601
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 3
ER -