Hereditary Ulceromutilating Sensory Neuropathy - Clinical, Electrophysiological and Molecular Genetic Study of Three Families

作者：Brozkova D Safka^*; Mazanec R; Boehm J; Vysata O; Auer Grumbach M; Windpassinger Ch; Neupauerova J; Barankova L; Nevsimalova S; Seeman P

来源：Ceska a Slovenska Neurologie a Neurochirurgie, 2014, 77(4): 479-486.

• hereditary sensory neuropathy
• HSN1
• CMT2B
• RAB7 gene
• SPTLC1 gene

Aim: The goal was to clinically and electrophysiologically characterize two types of ulceromutilating hereditary neuropathy CMT2B and HSN1 in three Czech families where molecular genetic cause was confirmed. Patients: We describe three families, overall 16 affected patients, with hereditary sensory neuropathy. Methods: The diagnosis of sensory, predominantly axonal neuropathy was done on the basis of neurological and electrophysiological examination. Sequencing of the SPTLC1 and RAB7 genes was done in families A, B, C and 24 unrelated patients with clinical suspicion for HSN. Results: Hereditary sensory neuropathy type 1 (HSN1) caused by the p.C133Y mutation in the SPTLC1 gene was confirmed in family B and the Charcot-Marie-Tooth type 2B (CMT2B) caused by p.L129F and p.V162M mutations in the RAB7 gene was confirmed in families A and C. All three mutations have been previously described. DNA examination of 24 unrelated patients did not reveal the cause of their disease. Conclusion: As in other countries, ulceromutilating hereditary neuropathies CMT2B and HSN1 are rare in the Czech population. However, clinical manifestations are clearly recognizable if correctly obtained genealogical data family history is properly taken into account. The three families described here are the only known families with hereditary neuropathies caused by mutations in RAB7 and SPTLC1 in the Czech Republic. Clarification of the cause of ulceromutilating sensory neuropathy is crucial for genetic and clinical prognosis, including targeted genetic prevention, but possibly also for an L-serin therapy in SPTLC1 mutation patients to be tested in a clinical study (Boston, USA).

• 出版日期2014