advertisement
Abstract #25675 Published in IGR 12-2
Hereditary recessive neuropathies: From clinics to the gene
Gouider RRevue Neurologique 2010; 166: 359
We report Maghrebian families having a sensory motor demyelinating hereditary neuropathy associated to glaucoma. Age of onset in our series was between 5 to 15 years. Neuropathy began in lower limb in 5 cases and in upper limb in 2 cases. We noticed an intrafamilial variability in the severity of the disease. Conduction nerve velocity was reduced (<20 m/s in median nerve). Nervous biopsy showed myelin nullout foldingnull. Ophthalmic examination was characterized by increased nullocular tonusnull in all cases. In one family, the abnormality of the ocular tonus was associated to an irido-corneal dysgenesis. Mutation in the gene of MTMR 13 on chromosome 11 was found in our 2 families.
R. Gouider. Department of Neurology, Razi Hospital, La ManoubaTunisia.
Classification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)