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31 Possible Causes for Mutation in the DCTN1 Gene

  • X-linked Parkinsonism-Spasticity Syndrome

    […] in the DCTN1 gene which codes for dynactin-1 Pitt-Hopkins syndrome - a rare, multi-symptomatic neurogenetic disorder Polyglutamine (polyQ) disorders Prion disease Retinitis[] […] nervous system mainly affecting the motor system Peroxisome disorders - Zellweger and non-Zellweger syndromes Perry syndrome - a progressive brain disease resulting from mutation[]

  • Distal Hereditary Motor Neuropathy

    Codon 59 appears to be the mutational hot spot in the DCTN1 gene, as all described dHMN7B patients to date have harbored an identical p.G59S mutation.[] Abstract Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result in various neurodegenerative diseases, including distal hereditary motor neuropathy type[] Despite advances in the identification of novel gene mutations, 80% of patients with dHMN have a mutation in an as-yet undiscovered gene.[]

  • Distal Hereditary Motor Neuropathy Type 1

    HMN7A is caused by mutation in the SLC5A7 gene (608761). HMN7B is caused by mutation in the DCTN1 gene (601143). HMN8 is caused by mutation in the TRPV4 gene (605427).[] HMN5A is caused by mutation in the GARS gene (600287) and HMN5B is caused by mutation in the REEP1 gene (609139).[]

  • Perry Syndrome

    We describe a new family carrying a G71R mutation in the DCTN1 gene.[] PS is caused by a change (mutation) in the DCTN1 gene and is inherited in an autosomal dominant manner, which means a mutation in one of the two copies of the gene a person[] Perry syndrome results from mutations in the DCTN1 gene.[]

  • Lafora Disease

    Perry syndrome Next Generation Sequencing and Sanger Sequencing of the DCTN1 gene Persistent Mullerian Duct Syndrome type II Detection of mutation c.6331del27 in the AMHR2[]

  • Spinal and Bulbar Muscular Atrophy

    Recently, a BSMA phenotype with distal predominance of limb weakness and wasting has been reported, caused by mutations in a subunit of the dynactin 1 DCTN1 gene.[]

  • Cor Triloculare Biventriculare

    ... 133 Autonomic failures in Perry syndrome with DCTN1 mutation.[] […] dyskinesia (PKD)], co-inherited as a single autosomal dominant trait, have been described (infantile convulsions with paroxysmal choreoathetosis; ICCA syndrome) and a disease gene[]

  • Amyotrophic Lateral Sclerosis 1

    Genetic testing and counseling Genetic testing is available for many ALS-causing gene mutations.[] : Mutations & variants occurring in "sporadic" ALS 51 General Frequency: 28% Common: C9orf72 (9%); ATXN2 (3%); SETX (9%); DCTN1 (3%) Multiple mutations in one patient Frequency[] […] associated with ALS1 are NEFH, PRPH, DCTN1.[]

  • Amyotrophic Lateral Sclerosis

    HaloPlex target enrichment system is a new targeted sequencing approach, which can detect already known mutations or candidate genes.[] Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 63(4): 724 – 6.[] Point mutations of the p150 subunit of dynactin ( DCTN1 ) gene in ALS. Neurology 63, 724–726 (2004). 181. Wu, C. H. et al.[]

  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    ., et al. (2004) Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 63, 724–726. PubMed Google Scholar Myrianthopoulos N. C., Lane M.[]

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