autosomal dominant Spastic paraplegia 3

Hereditary autosomal dominant spastic paraplegia that is associated with mutations in the ATL1 gene. OMIM: 182600

Also Known As:

Spastic paraplegia 3, autosomal dominant; Familial spastic paraplegia, autosomal dominant, 1; Fsp1 Familial spastic paraplegia 1; SPG3A Spastic paraplegia 3a; Spastic Paraplegia 3; Spastic Paraplegia 3a; Spastic Paraplegia Type 3a; Spg3a; Strumpell disease

Networked: 45 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hereditary Spastic Paraplegia
2.	Paraplegia (Spastic Paraplegia)
3.	Adducted Thumbs) Syndrome Shuffling Gait Aphasia MASA (Mental Retardation
4.	Cognitive Dysfunction
5.	Neurologic Gait Disorders (Gait, Hemiplegic)

Experts

1.	Blackstone, Craig: 10 articles (01/2022 - 12/2003)
2.	Zhu, Peng-Peng: 7 articles (01/2022 - 12/2003)
3.	Stadler, Julia: 5 articles (12/2016 - 12/2003)
4.	Soderblom, Cynthia: 3 articles (06/2008 - 04/2006)
5.	Sondermann, Holger: 2 articles (01/2022 - 02/2011)
6.	Park, Seong H: 2 articles (12/2016 - 04/2010)
7.	Fink, John K: 2 articles (09/2013 - 03/2006)
8.	Brice, Alexis: 2 articles (09/2009 - 12/2004)
9.	Ching, C K: 2 articles (08/2009 - 06/2009)
10.	Mak, Chloe M: 2 articles (08/2009 - 06/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to autosomal dominant Spastic paraplegia 3:

1.	GTP Phosphohydrolases (GTPases)IBA 04/15/2016 - "Atlastin 1 (ATL1, also known as SPG3A) encodes an ER membrane fusion GTPase and reticulon 2 (RTN2, also known as SPG12) helps shape ER tube formation. " 05/01/2007 - "Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis." 11/01/2001 - "Here we report the identification of mutations in a newly identified GTPase gene, SPG3A, in ADHSP affected individuals." 10/01/2014 - "SPG3A, which is the second most common type of autosomal dominant hereditary spastic paraplegia (HSP), is caused by mutations in the atlastin GTPase 1 gene, ATL1. " 06/01/2008 - "Mutations in the gene encoding the large oligomeric GTPase atlastin-1 are responsible for SPG3A, a common autosomal dominant hereditary spastic paraplegia. "
2.	SpastinIBA 09/01/2013 - "SPG3A/Atlastin, SPG4/Spastin, SPG12/reticulon 2, and SPG31/REEP1, all of which interact); (3) mitochondrial function (e.g. " 01/15/2006 - "Pure HSPs are most frequently inherited in an autosomal-dominant pattern and are commonly caused by mutations either in the SPG4 gene spastin or in the SPG3A gene atlastin. " 07/01/2005 - "Among the 8 loci associated with the autosomal dominant uncomplicated HSP (AD-HSP), the spastin (SPG4) and atlastin (SPG3A) genes have been known to account for approximately 40% and 10% of all cases, respectively. " 12/15/2003 - "We performed mutation screening by direct sequencing of all 14 exons and flanking sequences of the SPG3A gene in affected individuals from 12 unrelated English families, all with an early onset uncomplicated ADHSP in whom spastin mutations had previously been excluded. " 06/01/2009 - "About 40% of cases of hereditary spastic paraplegia are due to mutations in SPG4 encoding for spastin, while 10% are due to mutations in SPG3A encoding for atlastin. "
3.	Proteins (Proteins, Gene)FDA Link 04/15/2006 - "SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development." 01/01/2004 - "It is caused by mutations in the SPG3A gene encoding the protein atlastin. " 08/01/2010 - "Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. " 03/01/2006 - "Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. " 12/05/2003 - "Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin."
4.	Dynamins (Dynamin)IBA 01/01/2022 - "Mutations in the gene SPG3A/atlastin-1 (ATL1), encoding a dynamin superfamily member, which utilizes the energy from GTP hydrolysis for membrane tethering and fusion to promote the formation of a highly branched, smooth endoplasmic reticulum (ER), account for approximately 10% of all HSP cases. " 04/15/2006 - "Mutations in the gene encoding the dynamin superfamily member atlastin-1, an oligomeric GTPase highly localized to the Golgi apparatus in the adult brain, are responsible for SPG3A, a common autosomal dominant HSP. " 01/07/2011 - "We detected a missense mutation (c.1065C>A, p.Asn355Lys) in atlastin-1 (ATL1), a gene that is known to be mutated in early-onset hereditary spastic paraplegia SPG3A and that encodes the large dynamin-related GTPase atlastin-1. " 05/01/2007 - "Mutations in SPG3A causing autosomal dominant pure spastic paraplegia led to identification of atlastin, a new dynamin-like large GTPase. " 09/01/2009 - "Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum."
5.	DNA (Deoxyribonucleic Acid)IBA 01/01/2017 - "Genomic DNA extraction was performed, and all coding exons and junction region in the SPG3A gene were sequenced. " 03/01/2006 - "The SPG3A coding sequence was analyzed in DNA samples from the proband, her affected child, her unaffected parents, and control subjects by polymerase-chain-reaction amplification of each exon followed by direct DNA sequencing. " 08/01/2009 - "Using DNA mutation analysis, the authors identified an SPG3A missense mutation (p.R239C) in a Chinese family where three members have early-onset pure spastic paraplegia. "
6.	Guanosine Triphosphate (GTP)IBA 05/01/2015 - "Here we analyzed a subset of established atlastin1/SPG3A disease variants using cell-based assays for atlastin-mediated ER network formation and biochemical assays for atlastin-catalyzed GTP hydrolysis, dimer formation, and membrane fusion. " 01/01/2022 - "Mutations in the gene SPG3A/atlastin-1 (ATL1), encoding a dynamin superfamily member, which utilizes the energy from GTP hydrolysis for membrane tethering and fusion to promote the formation of a highly branched, smooth endoplasmic reticulum (ER), account for approximately 10% of all HSP cases. "
7.	Carrier Proteins (Binding Protein)IBA 12/05/2003 - "The early onset hereditary spastic paraplegia SPG3A is caused by mutations in the atlastin/human guanylate-binding protein-3 gene (renamed here atlastin-1), which codes for a 64-kDa member of the dynamin/Mx/guanylate-binding protein superfamily of large GTPases. " 01/01/2022 - "Common autosomal dominant HSPs are caused by mutations in genes encoding the microtubule-severing ATPase spastin (SPAST; SPG4), the membrane-bound GTPase atlastin-1 (ATL1; SPG3A) and the reticulon-like, microtubule-binding protein REEP1 (REEP1; SPG31). "
8.	Adenosine Triphosphatases (ATPase)IBA 01/01/2022 - "Common autosomal dominant HSPs are caused by mutations in genes encoding the microtubule-severing ATPase spastin (SPAST; SPG4), the membrane-bound GTPase atlastin-1 (ATL1; SPG3A) and the reticulon-like, microtubule-binding protein REEP1 (REEP1; SPG31). " 04/01/2010 - "The atlastin-1 GTPase interacts with spastin, a microtubule-severing ATPase, as well as with the DP1/Yop1p and reticulon families of ER-shaping proteins, and SPG3A caused by atlastin-1 mutations has been linked pathogenically to abnormal ER morphology. "
9.	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 01/01/2022 - "A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SPG10), SPG11 (SPG11), ZYFVE26 (SPG15), REEP1 (SPG31), ATP13A2 (SPG78), DYNC1H1, and BICD2 using a next generation sequencing-based technique. "
10.	Fluorodeoxyglucose F18 (Fludeoxyglucose F 18)FDA Link 10/01/2022 - "Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET."

Therapies and Procedures

Ligation

07/01/2012 - "Genetic studies were conducted in the following order: sequence analysis of the SPG4 gene (SPAST) exons, multiplex ligation-dependent probe amplification to detect genetic rearrangements in SPAST, and sequence analysis of the SPG3A gene exons. "
01/01/2011 - "Multiplex Ligation-dependent Probe Amplification-based mutation screening for SPG4 and SPG31 genes would be added to sequencing-based screening of SPG4, SPG31 and SPG3A genes in the routine diagnosis of HSP children."
12/12/2006 - "We developed and validated a multiplex ligation-dependent probe amplification assay targeting SPAST and SPG3A, another gene frequently involved in autosomal dominant HSP. "
02/01/2013 - "Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals."