title: Adult onset Hallervorden-Spatz syndrome or Seitelberger's disease with late onset: variants of the same entity? A clinico-pathological study.
abstract: The clinical and pathological features, including electron microscopy of a sporadic case of neuroaxonal dystrophy with findings of both Hallervorden-Spatz syndrome (HS) and Seitelberger's disease (SD) are presented. The patient presented with a slowly progressive illness with seizures, extrapyramidal symptoms, cerebellar ataxia, dementia, spasticity, myoclonic movements and a severe demyelinating peripheral neuropathy with secondary muscular atrophy. Neuropathological examination disclosed cerebral and cerebellar atrophy and excessive pigmentation of the globus pallidus and substantia nigra. Spheroids were widely distributed within the central and peripheral nervous system. Numerous neurofibrillary tangles (NFTs) were found within the hippocampal cortex, neocortex and brain stem. Extensive granulovacuolar degeneration (GVD), Hirano bodies and Lewy bodies were also demonstrated. Severe loss of myelin from the peripheral nerves and muscular denervation were striking features. We wish to report this case which shares findings of both entities, HSS and SD.
authors.affiliation: Department of Pathology (Neuropathology), University of Western Ontario, London, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Gaytan-Garcia
authors.forename: J C
authors.initials: JC
authors.lastname: Kaufmann
authors.forename: G B
authors.initials: GB
authors.lastname: Young
mesh_terms: D000328:Adult; D001480:Basal Ganglia Diseases / Q000175:diagnosis*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology