Mast Syndrome

Alternative name(s) : Spastic paraplegia 21,autosomal recessive\; SPG21

Gene_locus : human-SPG21

Mutation : 7 mutations A108P_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 (7)

Title : Mast Syndrome Outside the Amish Community: SPG21 in Europe - Amprosi_2022_Front.Neurol_12_799953
Author(s) : Amprosi M , Indelicato E , Nachbauer W , Hussl A , Stendel C , Eigentler A , Gallenmuller C , Boesch S , Klopstock T
Ref : Front.Neurol , 12 :799953 , 2022
PubMedID:
Gene_locus related to this paper: human-SPG21

Title : Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome - Xue_2021_CNS.Neurosci.Ther__
Author(s) : Xue YY , Huang XR , Dong HL , Wu ZY , Li HF
Ref : CNS Neurosci Ther , : , 2021
PubMedID: 34492745
Gene_locus related to this paper: human-SPG21

Title : Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21 -
Author(s) : Scarlato M , Citterio A , Barbieri A , Godi C , Panzeri E , Bassi MT
Ref : Journal of Neurology , 264 :2021 , 2017
PubMedID: 28752238
Gene_locus related to this paper: human-SPG21

Title : Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses - Ishiura_2014_J.Hum.Genet_59_163
Author(s) : Ishiura H , Takahashi Y , Hayashi T , Saito K , Furuya H , Watanabe M , Murata M , Suzuki M , Sugiura A , Sawai S , Shibuya K , Ueda N , Ichikawa Y , Kanazawa I , Goto J , Tsuji S
Ref : J Hum Genet , 59 :163 , 2014
PubMedID: 24451228
Gene_locus related to this paper: human-SPG21

Title : Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia - Simpson_2003_Am.J.Hum.Genet_73_1147
Author(s) : 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
PubMedID: 14564668
Gene_locus related to this paper: human-SPG21

Title : Mast syndrome: a recessively inherited form of presenile dementia with motor disturbances -
Author(s) : Cross HE
Ref : Birth Defects Orig Artic Ser , 7 :214 , 1971
PubMedID: 5173363
Gene_locus related to this paper: human-SPG21

Title : The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances -
Author(s) : Cross HE , McKusick VA
Ref : Archives of Neurology , 16 :1 , 1967
PubMedID: 6024251
Gene_locus related to this paper: human-SPG21