Amyotrophic Lateral Sclerosis-parkinsonism/dementia Complex 1

Description

Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodegenerative 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 to occur in the same kindred, the same sibship, and even the same individual.

Clinical Features

Phenotypes and symptoms related to Amyotrophic Lateral Sclerosis-parkinsonism/dementia Complex 1

  • Muscle weakness
  • Dementia
  • Parkinsonism
  • Muscle cramps
  • Amyotrophic lateral sclerosis
  • Bulbar palsy
  • Abnormal lower motor neuron morphology

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Amyotrophic Lateral Sclerosis-parkinsonism/dementia Complex 1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
50 %
PARK7 (DJ1) Deletion Test.

By Athena Diagnostics Inc in United States.

PARK7
Specificity
100 %
Genes
50 %
PARK7 (DJ1) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

PARK7
Specificity
100 %
Genes
50 %
Complete Parkinsonism Evaluation.

By Athena Diagnostics Inc in United States.

PARK7, PINK1, PRKN, LRRK2, SNCA
Specificity
20 %
Genes
50 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
50 %
Parkinson's Disease.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

POLG, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, ATP13A2, TAF1, CSF1R, FBXO7, SLC6A3, VPS35
Specificity
6 %
Genes
50 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
50 %
DJ1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PARK7
Specificity
100 %
Genes
50 %
DJ1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PARK7
Specificity
100 %
Genes
50 %
Parkinson disease (NGS panel for 10 genes).

By CGC Genetics in Portugal.

PARK7, PINK1, PRKN, PLA2G6, LRRK2, SNCA, ATP13A2, FBXO7, VPS35, DNAJC6
Specificity
10 %
Genes
50 %
Parkinson disease (NGS panel for 33 genes).

By CGC Genetics in Portugal.

POLG, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1, UCHL1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Parkinson disease 7 (PARK7, sequence analysis of PARK7/DJ1 gene).

By CGC Genetics in Portugal.

PARK7
Specificity
100 %
Genes
50 %
Parkinson's Disease, Early Onset via PARK7 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PARK7
Specificity
100 %
Genes
50 %
Parkinson Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PARK7, PINK1, PRKN, GBA, PLA2G6, MAPT, GCH1, LRRK2, SNCA, SYNJ1, ATP13A2, RAB39B, TAF1, FBXO7, SLC6A3, VPS35, DNAJC6
Specificity
6 %
Genes
50 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
50 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
PARK7 Parkinsonism.

By Centogene AG - the Rare Disease Company in Germany.

PARK7
Specificity
100 %
Genes
50 %
Parkinsons disease panel.

By Centogene AG - the Rare Disease Company in Germany.

SPR, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, FUS, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

PSEN1, OPTN, VCP, PARK7, SQSTM1, SOD1, FIG4, SPG11, MAPT, C9orf72, MATR3, ALS2, SIGMAR1, FUS, SETX, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Amyotrophic Lateral Sclerosis NGS Panel.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

PSEN1, OPTN, VCP, PARK7, SQSTM1, SOD1, FIG4, SPG11, MAPT, MATR3, ALS2, SIGMAR1, FUS, SETX, TARDBP, ANG, VAPB, PFN1, UBQLN2, HNRNPA1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Amyotrophic Lateral Sclerosis (ALS) Panel.

By CeGaT GmbH in Germany.

HFE, OPTN, VCP, GRN, PARK7, SQSTM1, SOD1, NEFH, ATXN1, FIG4, SPG11, MAPT, C9orf72, ATXN2, MATR3, SPART, ALS2, SIGMAR1, FUS, SETX , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Parkinson all Panel.

By CeGaT GmbH in Germany.

FMR1, PTEN, COMT, POLG, PANK2, SPR, HTRA2, GRN, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, ZFYVE26, SPG11, MAPT, ATXN2, ATXN3, GCH1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
50 %
Parkinson Syndrome, autosomal recessive Panel.

By CeGaT GmbH in Germany.

PARK7, PINK1, PRKN, PLA2G6, SYNJ1, ATP13A2, FBXO7, DNAJC6, SLC30A10, PODXL, VPS13C
Specificity
10 %
Genes
50 %
Single gene testing PARK7.

By CeGaT GmbH in Germany.

PARK7
Specificity
100 %
Genes
50 %
Test for PARK7-Related Parkinson Disease.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

PARK7
Specificity
100 %
Genes
50 %
Parkinson Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

HTRA2, PARK7, PINK1, PRKN, PLA2G6, MAPT, LRRK2, SNCA, ATP13A2, UCHL1, FBXO7, SLC6A3, VPS35, DNAJC6, EIF4G1, GIGYF2
Specificity
7 %
Genes
50 %
Invitae Hereditary Parkinson's Disease and Parkinsonism Panel.

By Invitae in United States.

SPR, PARK7, PINK1, PRKN, TH, GCH1, LRRK2, SNCA, DCTN1, ATP13A2, FBXO7, SLC6A3, VPS35, PRKRA, DNAJC6
Specificity
7 %
Genes
50 %
Parkinson disease 7: DJ1 (PARK7) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PARK7
Specificity
100 %
Genes
50 %
PARKINSON DISEASE.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PARK7, PINK1, PRKN, PLA2G6, LRRK2, SNCA, ATP13A2, TAF1, FBXO7, VPS35
Specificity
10 %
Genes
50 %
NGS panel - Parkinson.

By Genome Diagnostics VU University Medical Center in Netherlands.

COMT, POLG, SPR, HTRA2, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, MAPT, ATXN2, ATXN3, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
PARK7 (DJ1) - Gene Sequencing & Del/Dup analysis.

By Genome Diagnostics VU University Medical Center in Netherlands.

PARK7
Specificity
100 %
Genes
50 %
Parkinson-Alzheimer-Dementia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TYROBP, APP, PSEN1, POLG, HTRA2, GRN, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, PSEN2, MAPT, APOE, GCH1, LRRK2, SNCA, DCTN1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
PARK7.

By Fulgent Genetics Fulgent Genetics in United States.

PARK7
Specificity
100 %
Genes
50 %
Parkinson Disease Panel.

By Blueprint Genetics in Finland.

SPR, PARK7, PINK1, PRKN, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, ATP1A3, SYNJ1, ATP13A2, VPS13A, SLC20A2, FBXO7, SLC6A3, VPS35, PRKRA, PDGFRB , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Parkinson disease type 7.

By Bioarray in Spain.

PARK7
Specificity
100 %
Genes
50 %
Parkinson Disease, Early Onset NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PARK7, PINK1, PRKN, PLA2G6, GCH1, SNCA, ATP13A2, FBXO7, DNAJC6
Specificity
12 %
Genes
50 %
PARK7 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PARK7
Specificity
100 %
Genes
50 %
PARKINSON TYPE 7 (PARK7).

By Laboratorio de Genetica Clinica SL in Spain.

PARK7
Specificity
100 %
Genes
50 %
PARKINSON NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

HTRA2, COQ2, PARK7, PINK1, PRKN, GBA, PLA2G6, GCH1, LRRK2, SNCA, SYNJ1, ATP13A2, ATP6AP2, UCHL1, FBXO7, SLC6A3, VPS35, DNAJC6, EIF4G1
Specificity
6 %
Genes
50 %
Parkinson Disease Type 7, Sequencing PARK7 Gene.

By Reference Laboratory Genetics in Spain.

PARK7
Specificity
100 %
Genes
50 %
Parkinson Disease , Deletions-Duplications (MLPA) SNCA, PARK2, PINK1, PARK7, LRRK2, UCHL1 Genes.

By Reference Laboratory Genetics in Spain.

PARK7, PINK1, PRKN, LRRK2, SNCA, UCHL1
Specificity
17 %
Genes
50 %
Parkinson Disease , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

PARK7, PINK1, PRKN, PLA2G6, LRRK2, SNCA, ATP13A2, TAF1, FBXO7, SLC6A3, VPS35
Specificity
10 %
Genes
50 %
Parkinson Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PARK7, PINK1, PRKN, LRRK2, SNCA, ATP13A2, TAF1, FBXO7, SLC6A3, VPS35
Specificity
10 %
Genes
50 %
Hereditary dementias (NGS panel for 28 genes).

By CGC Genetics in Portugal.

TYROBP, APP, PSEN1, VCP, GRN, TIMM8A, SNCB, PSEN2, MAPT, APOE, NOTCH3, SNCA, FUS, CHMP2B, TARDBP, UBQLN2, ATP13A2, DNMT1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

TRPM7
Specificity
100 %
Genes
50 %
TRPM7.

By Fulgent Genetics Fulgent Genetics in United States.

TRPM7
Specificity
100 %
Genes
50 %

Alternate names

Amyotrophic Lateral Sclerosis-parkinsonism/dementia Complex 1 Is also known as amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam, guam disease, als-pdc;amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome; guam disease; lytico-bodig disease; pdals; parkinsonism-dementia-als complex.



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