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ARYLSULFATASE A PSEUDODEFICIENCY

MedGen UID:
865528
•Concept ID:
C4017091
•
Finding
OMIM®: 607574

Professional guidelines

PubMed

A novel arylsulfatase A protein variant and genotype in two patients with major depression.
Ricketts MH, Amsterdam JD, Park DS, Yang RS, Poretz RD, Zhang X, Fanale M, Baddoo A, Manowitz P
J Affect Disord 1996 Oct 14;40(3):137-47. doi: 10.1016/0165-0327(96)00051-1. PMID: 8897113
An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy.
Gieselmann V
Hum Genet 1991 Jan;86(3):251-5. doi: 10.1007/BF00202403. PMID: 1671769

Recent clinical studies

Etiology

Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D, Fakiola M, Syn G, Anderson D, Cordell HJ, Scaman ESH, Davis E, Miles SJ, McLeay T, Jamieson SE, Lassmann T, Blackwell JM
Sci Rep 2018 Jul 19;8(1):10912. doi: 10.1038/s41598-018-29279-9. PMID: 30026549Free PMC Article
ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis.
Marcão A, Pinto E, Rocha S, Sá Miranda MC, Ferreira L, Amaral O
Mol Genet Metab 2003 Aug;79(4):305-7. doi: 10.1016/s1096-7192(03)00092-1. PMID: 12948748
A novel arylsulfatase A protein variant and genotype in two patients with major depression.
Ricketts MH, Amsterdam JD, Park DS, Yang RS, Poretz RD, Zhang X, Fanale M, Baddoo A, Manowitz P
J Affect Disord 1996 Oct 14;40(3):137-47. doi: 10.1016/0165-0327(96)00051-1. PMID: 8897113
Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype.
Ricketts MH, Goldman D, Long JC, Manowitz P
Am J Med Genet 1996 Jul 26;67(4):387-92. doi: 10.1002/(SICI)1096-8628(19960726)67:4<387::AID-AJMG12>3.0.CO;2-F. PMID: 8837707
Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype.
Zlotogora J, Furman-Shaharabani Y, Goldenfum S, Winchester B, von Figura K, Gieselmann V
Am J Med Genet 1994 Aug 15;52(2):146-50. doi: 10.1002/ajmg.1320520205. PMID: 7801999

Diagnosis

Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.
Olkhovych NV, Gorovenko NG
Ukr Biochem J 2016 Sep-Oct;88(5):96-106. doi: 10.15407/ubj88.05.096. PMID: 29235819
Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.
Ben Halim N, Dorboz I, Kefi R, Kharrat N, Eymard-Pierre E, Nagara M, Romdhane L, Ben Alaya-Bouafif N, Rebai A, Miladi N, Boespflug-Tanguy O, Abdelhak S
Neurol Sci 2016 Mar;37(3):403-9. Epub 2015 Nov 14 doi: 10.1007/s10072-015-2417-5. PMID: 26577183
A novel arylsulfatase A protein variant and genotype in two patients with major depression.
Ricketts MH, Amsterdam JD, Park DS, Yang RS, Poretz RD, Zhang X, Fanale M, Baddoo A, Manowitz P
J Affect Disord 1996 Oct 14;40(3):137-47. doi: 10.1016/0165-0327(96)00051-1. PMID: 8897113
Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype.
Ricketts MH, Goldman D, Long JC, Manowitz P
Am J Med Genet 1996 Jul 26;67(4):387-92. doi: 10.1002/(SICI)1096-8628(19960726)67:4<387::AID-AJMG12>3.0.CO;2-F. PMID: 8837707
Delayed postanoxic demyelination and arylsulfatase-A pseudodeficiency.
Weinberger LM, Schmidley JW, Schafer IA, Raghavan S
Neurology 1994 Jan;44(1):152-4. doi: 10.1212/wnl.44.1.152. PMID: 7904733

Prognosis

An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.
Tinsa F, Caillaud C, Vanier MT, Bousnina D, Boussetta K, Bousnina S
J Child Neurol 2010 Jan;25(1):82-6. Epub 2009 Jul 2 doi: 10.1177/0883073809334382. PMID: 19574581
A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.
Regis S, Filocamo M, Stroppiano M, Corsolini F, Caroli F, Gatti R
Hum Genet 1998 Jan;102(1):50-3. doi: 10.1007/s004390050652. PMID: 9490297
Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy.
Tinuper P, Plazzi G, Monari L, Sangiorgi S, Pellissier JF, Cerullo A, Provini F, Capellari S, Baruzzi A, Lugaresi E
Epilepsia 1994 Mar-Apr;35(2):332-5. doi: 10.1111/j.1528-1157.1994.tb02440.x. PMID: 7908874

Clinical prediction guides

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.
Blue EE, Bis JC, Dorschner MO, Tsuang DW, Barral SM, Beecham G, Below JE, Bush WS, Butkiewicz M, Cruchaga C, DeStefano A, Farrer LA, Goate A, Haines J, Jaworski J, Jun G, Kunkle B, Kuzma A, Lee JJ, Lunetta KL, Ma Y, Martin E, Naj A, Nato AQ, Navas P, Nguyen H, Reitz C, Reyes D, Salerno W, Schellenberg GD, Seshadri S, Sohi H, Thornton TA, Valadares O, van Duijn C, Vardarajan BN, Wang LS, Boerwinkle E, Dupuis J, Pericak-Vance MA, Mayeux R, Wijsman EM; on behalf of the Alzheimer’s Disease Sequencing Project
Dement Geriatr Cogn Disord 2018;45(1-2):1-17. Epub 2018 Feb 27 doi: 10.1159/000485503. PMID: 29486463Free PMC Article
Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.
Ben Halim N, Dorboz I, Kefi R, Kharrat N, Eymard-Pierre E, Nagara M, Romdhane L, Ben Alaya-Bouafif N, Rebai A, Miladi N, Boespflug-Tanguy O, Abdelhak S
Neurol Sci 2016 Mar;37(3):403-9. Epub 2015 Nov 14 doi: 10.1007/s10072-015-2417-5. PMID: 26577183
A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.
Regis S, Filocamo M, Stroppiano M, Corsolini F, Caroli F, Gatti R
Hum Genet 1998 Jan;102(1):50-3. doi: 10.1007/s004390050652. PMID: 9490297
Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype.
Ricketts MH, Goldman D, Long JC, Manowitz P
Am J Med Genet 1996 Jul 26;67(4):387-92. doi: 10.1002/(SICI)1096-8628(19960726)67:4<387::AID-AJMG12>3.0.CO;2-F. PMID: 8837707
Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.
Penzien JM, Kappler J, Herschkowitz N, Schuknecht B, Leinekugel P, Propping P, Tønnesen T, Lou H, Moser H, Zierz S
Am J Hum Genet 1993 Mar;52(3):557-64. PMID: 8095368Free PMC Article

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