Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family.
We describe a form of hereditary motor and sensory neuropathy (HMSN) affecting four siblings in an Italian family of Gypsy ethnic origin with both clinical and pathological findings very reminiscent of the HMSN Lom type (HMSNL), recently described in a group of Bulgarian Gypsies. Genetic analysis demonstrated linkage to chromosome 8q24 and conserved haplotypes in the HMSNL region, thus confirming that this is the first Gypsy family outside the Balkans suffering from the same disorder.
Merlini
L
L
Laboratory of Neuromuscular Patholog, Istituto Ortopedico Rizzoli, Bologna, Italy. merlini@ior.dsnet.it
Villanova
M
M
Sabatelli
P
P
Trogu
A
A
Malandrini
A
A
Yanakiev
P
P
Maraldi
N M
NM
Kalaydjieva
L
L
D000293:Adolescent; D002648:Child; D002898:Chromosomes, Human, Pair 8; D017124:Conserved Sequence; D008040:Genetic Linkage / Q000235:genetics; D006239:Haplotypes; D015417:Hereditary Sensory and Motor Neuropathy / Q000145:classification* / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007558:Italy; D008854:Microscopy, Electron; D006178:Romani People; D013497:Sural Nerve / Q000473:pathology