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Disease Report for: Mast Syndrome

Gene_locushuman-SPG21MutationA108P_human-SPG21
T201NfsX11_human-SPG21
F40EfsX27_human-SPG21
DelEx3Ex7_human-SPG21
I163X_human-SPG21
V52fs_human-SPG21
R40X_human-SPG21
OMIM: 248900, 608181
Comment
Mast Syndrome is an autosomal recessive, complicated form of hereditary spastic paraplegia with dementia. Subtle childhood abnormalities may be present, but the main features develop in early adulthood. The disease is slowly progressive, and cerebellar and extrapyramidal signs are also found in patients with advanced disease. Maspardin-ACP33-SPG21 is mutated in Mast syndrome (Cross and McKusick 1967, Simpson et al 2003); In an Ohio Amish isolate, Cross and McKusick (1967) found 20 cases of a recessively inherited form of presenile dementia, which they termed Mast syndrome. A 1-bp insertion (601insA) in the ACP33 gene, causing a frameshift and premature termination of the protein.. Ishiura et al. (2014) reported 2 Japanese brothers with autosomal recessive SPG21. The patients had onset of gait disturbances in their fifties and sixties, much later than that reported by Cross and McKusick (1967) The mutation was A108P substitution
References
    Title: Mast Syndrome Outside the Amish Community: SPG21 in Europe
    Amprosi M, Indelicato E, Nachbauer W, Hussl A, Stendel C, Eigentler A, Gallenmuller C, Boesch S, Klopstock T
    Ref: Front.Neurol, 12:799953, 2022 : PubMed

            

    Title: Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome
    Xue YY, Huang XR, Dong HL, Wu ZY, Li HF
    Ref: CNS Neurosci Ther, :, 2021 : PubMed

            

    Title: Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21
    Scarlato M, Citterio A, Barbieri A, Godi C, Panzeri E, Bassi MT
    Ref: Journal of Neurology, 264:2021, 2017 : PubMed

            

    Title: Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses
    Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, Murata M, Suzuki M, Sugiura A and Tsuji S <6 more author(s)>
    Ref: J Hum Genet, 59:163, 2014 : PubMed

            

    Title: Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
    Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH
    Ref: American Journal of Human Genetics, 73:1147, 2003 : PubMed

            

    Title: Mast syndrome: a recessively inherited form of presenile dementia with motor disturbances
    Cross HE
    Ref: Birth Defects Orig Artic Ser, 7:214, 1971 : PubMed

            

    Title: The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances
    Cross HE, McKusick VA
    Ref: Archives of Neurology, 16:1, 1967 : PubMed

            


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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