Familial idiopathic brain calcification--a new and familial alpha-synucleinopathy?
Familial idiopathic brain calcification (FIBC) is a rare disorder characterised by autosomal dominant transmission, adult onset cerebellar and/or extrapyramidal features and idiopathic calcification of the brain. We present a family with FIBC where pathological studies showed that the proband had alpha-synuclein-immunopositive glial and neuronal cytoplasmic inclusions in oligodendrocytes in the putamen, midbrain and pons. This may represent a new and familial alpha-synuclein disorder causing a predominantly extrapyramidal picture similar to multisystem atrophy.
Lhatoo
Samden D
SD
Department of Neurology, Institute of Clinical Neurosciences, Frenchay Hospital, Bristol, UK. slhatoo@aol.com
Perunovic
Branca
B
Love
Seth
S
Houlden
Henry
H
Campbell
Malcolm J
MJ
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology*; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000378:metabolism*; D019636:Neurodegenerative Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D016874:Neurofibrillary Tangles / Q000473:pathology; D009457:Neuroglia / Q000473:pathology; D010375:Pedigree; D058225:Plaque, Amyloid / Q000473:pathology; D051843:Synucleins; D014057:Tomography, X-Ray Computed; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein