CMT with pyramidal features. Charcot-Marie-Tooth.
To determine whether Charcot-Marie-Tooth (CMT) with pyramidal features is genetically distinct from other dominantly inherited axonal neuropathies, the authors examined all chromosomal loci and genes for axonal CMT. Two families were identified with an axonal CMT phenotype with distal wasting, weakness, pes cavus, sensory loss, and mild pyramidal signs (including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait). Linkage studies excluded CMT2A, 2B, 2D, 2E, and 2F; ALS4; and HMN2. There were no mutations in the PMP22, MPZ/Po, or EGR2 genes.
Vucic
S
S
University of Sydney, Neurobiology Laboratory, ANZAC Research Institute, Concord Hospital, NSW, Australia.
Kennerson
M
M
Zhu
D
D
Miedema
E
E
Kok
C
C
Nicholson
G A
GA
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001369:Axons; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D002877:Chromosomes, Human / Q000235:genetics; D004252:DNA Mutational Analysis; D004568:Electrodiagnosis; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011712:Pyramidal Tracts / Q000503:physiopathology*