1.
J Neurol Neurosurg Psychiatry
; 78(9): 1011-2, 2007 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17702788
2.
Clin Neurol Neurosurg
; 108(8): 780-3, 2006 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16271825
RESUMO
There is little published information on the autopsy findings in hereditary sensory neuropathy type I (HSN I), and none in genetically confirmed cases. We report the neuropathological findings in a 93-year-old woman with a disease of unusually late onset, who was part of a large HSN I kindred and in whom genetic analysis confirmed an SPTLC1 T399G mutation.