Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene.
Familial encephalopathy with neuroserpin inclusion bodies is a recently described neurodegenerative disease that is responsible for progressive myoclonic epilepsy or presenile dementia. In a French family with the S52R mutation of the neuroserpin gene, progressive myoclonic epilepsy was associated with a frontal syndrome. The typical cerebral inclusions (Collins bodies) were abundant in the frontal cortex and in the head of the caudate nucleus but spared the cerebellum.
Gourfinkel-An
I
I
Pôle d'Epileptologie Clinique, Hôpital de la Salpêtrière, Paris Cedex 13, France. isabelle.an@psl.aphp.fr
Duyckaerts
C
C
Camuzat
A
A
Meyrignac
C
C
Sonderegger
P
P
Baulac
M
M
Brice
A
A
D000328:Adult; D019943:Amino Acid Substitution; D003704:Dementia / Q000453:epidemiology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005602:France / Q000208:ethnology; D005625:Frontal Lobe / Q000473:pathology / Q000503:physiopathology*; D005838:Genotype; D006801:Humans; D002479:Inclusion Bodies; D008297:Male; D020125:Mutation, Missense; D020191:Myoclonic Epilepsies, Progressive / Q000453:epidemiology / Q000235:genetics*; D009479:Neuropeptides / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D015843:Serpins / Q000235:genetics*; D013557:Switzerland; D000097522:Neuroserpin
D009479:Neuropeptides; D015843:Serpins; D000097522:Neuroserpin