Amyotrophic lateral sclerosis-parkinsonism-dementia complex

General Information (adopted from Orphanet):

Synonyms, Signs: ALS-PDC
AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX OF GUAM
PDALS
Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam
guam disease
Lytico-Bodig disease
Parkinsonism-dementia-ALS complex
Number of Symptoms 10
OrphanetNr: 90020
OMIM Id: 105500
ICD-10: G12.2
G31.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Neurodegenerative disease with dementia
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002366) Abnormal lower motor neuron morphology 12 / 7739
2
(HPO:0001300) Parkinsonism 75 / 7739
3
(HPO:0000726) Dementia 131 / 7739
4
(HPO:0007354) Amyotrophic lateral sclerosis 25 / 7739
5
(HPO:0001283) Bulbar palsy 31 / 7739
6
(HPO:0001324) Muscle weakness 859 / 7739
7
(HPO:0003394) Muscle cramps 106 / 7739
8
(OMIM) Bulbar paralysis 1 / 7739
9
(OMIM) Progressive motor function loss 1 / 7739
10
(OMIM) Parkinsonism-dementia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Amyotrophic lateral sclerosis-parkinsonsim/dementia complex of Guam is a neurodengenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known ...
Clinical Description OMIM Plato et al. (1969) found about the same level of inbreeding in affected sibships as in unaffected sibships and interpreted this as an argument against recessive inheritance. Their finding that affected sibships were more closely related to each ...
Molecular genetics OMIM - ALS-PDC of Guam

Hermosura et al. (2005) reported a heterozygous mutation in the TRPM7 gene (T1482I; 605692.0001; dbSNP rs8042919) in 5 of 22 patients with ALS-Parkinsonism/dementia complex of Guam. The variant was not identified in ...

Population genetics OMIM In a population-based survey of 1,984 Chamorro residents of Guam older than age 65, Galasko et al. (2007) found a 12.2% point prevalence of all forms of dementia. Subtypes included Guam dementia (8.8%), which is clinically equal to ...