title: A clinical and pathological study of motor neurone disease on Guam.
abstract: Despite over 40 years of intensive study, the cause of the high incidence of motor neurone disease (MND) on Guam, and the relationship between this disease and MND seen in the rest of the world are still uncertain. We present a series of 45 cases of Guamanian MND, which reaffirm the clinical similarity between this disease and MND seen in other countries. However, the occurrence of MND among the indigenous Chamorros of Guam is distinguished by four factors: (i) high prevalence; (ii) frequent familial occurrence; (iii) co-occurrence with the parkinsonism-dementia complex (PDC); and (iv) association with an unusual and distinctive linear retinopathy termed Guam retinal pigment epitheliopathy (GRPE). These distinguishing factors were not present in four non-Chamorros who resided on Guam when their MND symptoms occurred. Pathologically, the classical features of MND were seen in Guamanian Chamorro cases including ubiquitin inclusions. Neurofibrillary tangles were frequently seen. The neurofibrillary tangles appeared in the same distribution as described in the PDC but, unlike classical PDC, they were not usually associated with cell loss and occurred less frequently. While neurofibrillary tangle formation and the clinicopathological syndrome of MND may occur in parallel, observations from this series suggest that pathologically classical MND on Guam may occur independently of neurofibrillary degeneration and the clinical features of PDC.
authors.affiliation: Neurogenetics Section, University Department of Clinical Neurology, Reta Lila Weston Institute of Neurological Sciences, University College London, London, UK.
authors.forename: H R
authors.initials: HR
authors.lastname: Morris
authors.forename: S
authors.initials: S
authors.lastname: Al-Sarraj
authors.forename: C
authors.initials: C
authors.lastname: Schwab
authors.forename: K
authors.initials: K
authors.lastname: Gwinn-Hardy
authors.forename: J
authors.initials: J
authors.lastname: Perez-Tur
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: J
authors.initials: J
authors.lastname: Hardy
authors.forename: A J
authors.initials: AJ
authors.lastname: Lees
authors.forename: P L
authors.initials: PL
authors.lastname: McGeer
authors.forename: S E
authors.initials: SE
authors.lastname: Daniel
authors.forename: J C
authors.initials: JC
authors.lastname: Steele
mesh_terms: D000328:Adult; D000368:Aged; D000870:Anterior Horn Cells / Q000473:pathology; D006141:Guam / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000453:epidemiology* / Q000401:mortality / Q000473:pathology*; D020734:Parkinsonian Disorders / Q000150:complications / Q000453:epidemiology / Q000473:pathology; D012189:Retrospective Studies; D015996:Survival Rate