[Hereditary motor and sensory Lom-neuropathy--first Hungarian case report]. / Herediter motoros és szenzoros Lom-neuropathia. Elso magyarországi közlés.
Ideggyogy Sz
; 60(1-2): 51-5, 2007 Jan 20.
Article
en Hu
| MEDLINE
| ID: mdl-17432095
Hereditary motor and sensory neuropathy-Lom is an autosomal recessive disorder of the peripheral nervous system, which occurs only in the european Roma population. The symptoms start in the first decade with slowly progressive gait disturbance, weakness and wasting of distal upper extremity muscles, joint deformities and hearing loss develop later in the second and third decades. This disorder is caused by a homozygous missense mutation of the NDRG1 gene, located in the 8q24 region. The Schwann cell dysfunction is most probably caused by altered lipid metabolism as a consequence of the NDRG1 mutation. Molecular genetic testing can be a first diagnostic step among roma individuals showing a Lom neuropathy phenotype, making evaluation of such patients and also genetic counselling faster and easier. Screening for hereditary neuromuscular disorders in this genetically isolated community may become an important public health issue in the near future.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neuropatía Hereditaria Motora y Sensorial
/
Proteínas de Ciclo Celular
/
Mutación Missense
/
Péptidos y Proteínas de Señalización Intracelular
Límite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
País/Región como asunto:
Europa
Idioma:
Hu
Revista:
Ideggyogy Sz
Año:
2007
Tipo del documento:
Article
Pais de publicación:
Hungria