Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis)
نویسندگان
چکیده
منابع مشابه
Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy.
Mutations in the Neuroserpin gene have been reported to cause familial presenile dementia. We describe a new family in which the S52R Neuroserpin mutation is associated with progressive myoclonus epilepsy in 2 siblings. The proband presented myoclonus and epilepsy at age 24, his brother and mother presented a similar disorder when they were 25. A clinical diagnosis of progressive myoclonus epil...
متن کاملProgressive myoclonus epilepsy without Lafora bodies.
Many attempts have been made to define consistent clinical and pathological entities within the syndrome of progressive myoclonus epilepsy. The existence of a specific metabolic defect underlying one form of the disease is suggested by the presence of characteristic cerebral inclusion bodies (Lafora and Glueck, 1911) and of material with similar staining properties in liver and muscle (Harriman...
متن کاملProgressive familial myoclonus epilepsy.
Seven cases of progressive familial myoclonus epilepsy occurring in three families are presented. The patients were in different stages of the illness. The EEG was abnormal in all. It is suggested that these cases belong clinically to the Lafora bodies group. Nystagmus and optic atrophy, seen in one patient, have not been described previously. Myoclonic jerks did not respond to treatment with d...
متن کاملProgressive myoclonus epilepsy associated with SACS gene mutations
Pathogenic variants in the SACS gene (OMIM #604490) cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ARSACS is a neurodegenerative early-onset progressive disorder, originally described in French Canadians, but later observed elsewhere.(1) Whole-exome sequencing of a large group of patients with unclassified progressive myoclonus epilepsies (PMEs) identified 2 patients ...
متن کاملCognitive deficits associated with a recently reported familial neurodegenerative disease: familial encephalopathy with neuroserpin inclusion bodies.
BACKGROUND We recently discovered an autosomal dominant disease causing a progressive dementia. The disease is caused by a point mutation in the gene coding for the serine protease inhibitor (ie, serpin) neuroserpin. The mutation results in an unstable neuroserpin protein that readily aggregates into intraneuronal inclusions that we identify as Collins bodies. The bodies are distributed through...
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ژورنال
عنوان ژورنال: Epileptic Disorders
سال: 2016
ISSN: 1294-9361,1950-6945
DOI: 10.1684/epd.2016.0847