scholarly journals PMCA 4 ( ATP 2B4) mutation in familial spastic paraplegia causes delay in intracellular calcium extrusion

2015 ◽  
Vol 5 (4) ◽  
Author(s):  
Philip Wing‐Lok Ho ◽  
Shirley Yin‐Yu Pang ◽  
Miaoxin Li ◽  
Zero Ho‐Man Tse ◽  
Michelle Hiu‐Wai Kung ◽  
...  
Keyword(s):  
Intracellular Calcium ◽  
Spastic Paraplegia ◽  
Familial Spastic Paraplegia ◽  
Calcium Extrusion

scholarly journals A study of posterior column function in familial spastic paraplegia.

1982 ◽  
Vol 45 (1) ◽  
pp. 46-49 ◽  
Author(s):  
M R Dimitrijevic ◽  
J A Lenman ◽  
T Prevec ◽  
K Wheatly
Keyword(s):  
Posterior Column ◽  
Spastic Paraplegia ◽  
Familial Spastic Paraplegia

scholarly journals Ddhd1 knockout mouse as a model of locomotive and physiological abnormality in familial spastic paraplegia

2021 ◽  
Vol 41 (2) ◽  
Author(s):  
Takuya Morikawa ◽  
Hiroaki Ohishi ◽  
Kengo Kosaka ◽  
Tomofumi Shimojo ◽  
Akihiro Nagano ◽  
...  
Keyword(s):  
Nervous System ◽  
Gene Ontology ◽  
Knockout Mice ◽  
Knockout Mouse ◽  
Null Allele ◽  
Spastic Paraplegia ◽  
Phospholipase A1 ◽  
Downstream Signaling ◽  
Familial Spastic Paraplegia ◽  
Go Terms

Abstract We have previously reported a novel homozygous 4-bp deletion in DDHD1 as the responsible variant for spastic paraplegia type 28 (SPG28; OMIM#609340). The variant causes a frameshift, resulting in a functionally null allele in the patient. DDHD1 encodes phospholipase A1 (PLA1) catalyzing phosphatidylinositol to lysophosphatidylinositol (LPI). To clarify the pathogenic mechanism of SPG28, we established Ddhd1 knockout mice (Ddhd1[−/−]) carrying a 5-bp deletion in Ddhd1, resulting in a premature termination of translation at a position similar to that of the patient. We observed a significant decrease in foot–base angle (FBA) in aged Ddhd1(−/−) (24 months of age) and a significant decrease in LPI 20:4 (sn-2) in Ddhd1(−/−) cerebra (26 months of age). These changes in FBA were not observed in 14 months of age. We also observed significant changes of expression levels of 22 genes in the Ddhd1(−/−) cerebra (26 months of age). Gene Ontology (GO) terms relating to the nervous system and cell–cell communications were significantly enriched. We conclude that the reduced signaling of LPI 20:4 (sn-2) by PLA1 dysfunction is responsible for the locomotive abnormality in SPG28, further suggesting that the reduction of downstream signaling such as GPR55 which is agonized by LPI is involved in the pathogenesis of SPG28.

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

1993 ◽  
Vol 5 (2) ◽  
pp. 163-167 ◽  
Author(s):  
Jamilé Hazan ◽  
Catherine Lamy ◽  
Judith Melki ◽  
Arnold Munnich ◽  
Jean de Recondo ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Spastic Paraplegia ◽  
Familial Spastic Paraplegia ◽  
Chromosome 14Q

scholarly journals Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.

1976 ◽  
Vol 13 (6) ◽  
pp. 455-461 ◽  
Author(s):  
A M Pierides ◽  
G Holti ◽  
A L Crombie ◽  
D F Roberts ◽  
S E Gardiner ◽  
...  
Keyword(s):  
Spastic Paraplegia ◽  
Fabry’S Disease ◽  
Fabry's Disease ◽  
Familial Spastic Paraplegia

Molecular genetics of familial spastic paraplegia: a multitude of responsible genes

1996 ◽  
Vol 137 (2) ◽  
pp. 131-138 ◽  
Author(s):  
Hisashi Kobayashi ◽  
Carlos A. Garcia ◽  
Gishlaine Alfonso ◽  
Harold G. Marks ◽  
Eric P. Hoffman
Keyword(s):  
Molecular Genetics ◽  
Spastic Paraplegia ◽  
Familial Spastic Paraplegia
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