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4,514 Possible Causes for allelic, disorder, to, autosomal dominant, spg13

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  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    Individual disorders are analyzed by age of onset, with attention given to disorders present in utero, in the newborn, in the infant, and the adolescent, making this a practical[books.google.com] This case adds to the allelic heterogeneity of IAHSP.[ncbi.nlm.nih.gov] Autosomal dominant forms have been mapped to chromosome 21q21 (ALS1 [MIM 105400 ]) (Siddique 1991 ) and 18q21 (ALS6 [MIM 606640 ]) (Hand et al. 2002 ).[ncbi.nlm.nih.gov] Spastic paraplegia 13, autosomal dominant (SPG13) is caused by mutations in the HSPD1 gene 10.[centogene.com] .: Hereditary spastic paraplegia SPG13 is associated with a muatation in the gene encoding the mitochondrial chaperonin Hsp60 . Am J Hum Genet 2002, 70 :1328–1332.[link.springer.com]

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  • Autosomal Dominant Spastic Paraplegia Type 42

    In 1977 he joined the faculty of Baylor College of Medicine and became a founder and director of the Parkinson's Disease Center and Movement Disorders Clinic, which has since[books.google.com] AD Gene Name ALDH18A1 ATL1 BSCL2 HSPD1 KIF5A NIPA1 POLG POLG2 REEP1 SPAST RTN2 SLC33A1 SETX TWNK WASHC5 Alternate Gene Name GSAS, PYCS, SPG3, SPG3A, GNG3LG, SPG17, IOSCA, SPG13[sickkids.ca] […] phenotype caused by Slc33a1 knockdown in zebrafish, the mutant SLC33A1 (p.S113R) was not, suggesting that S113R mutation renders SLC33A1 nonfunctional and one that wild-type allele[gene-tools.com] An important gene associated with Spastic Paraplegia 42, Autosomal Dominant is SLC33A1 (Solute Carrier Family 33 Member 1).[malacards.org] […] without lipodystrophy (PELD) Hereditary sensory neuropathy type 1D (HSN1D) Leukodystrophy, hypomyelinating, 4 (HLD4) Spastic paraplegia 10 (SPG10) Spastic paraplegia 13 (SPG13[ncbi.nlm.nih.gov]

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  • Hereditary Spastic Paraplegia

    Early in the disease course, there may be mild gait difficulties and stiffness.[web.archive.org] This work illustrates locus and allelic heterogeneity in five families with hereditary spastic paraplegia.[ncbi.nlm.nih.gov] At present, 19 autosomal dominant loci for HSP have been mapped.[ncbi.nlm.nih.gov] SPG13 HSP is an autosomal dominant form of uncomplicated HSP mapped to chromosome 2q24-34.[doi.org] Mutation analysis of ATXN3 showed that these cases have one expanded allele and one normal allele.[ncbi.nlm.nih.gov]

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  • Spastic Paraplegia

    Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014 Jan 31;343:506-511. 5. Fink JK.[rarediseases.org] Whole exome sequencing identified a predicted pathogenic pair of missense variants in SPAST at the same chromosomal location, each with a different alternative allele, while[ncbi.nlm.nih.gov] Autosomal dominant hereditary spastic paraplegia can result from changes in a number of different genes.[medicinenet.com] AD Gene Name ALDH18A1 ATL1 BSCL2 HSPD1 KIF5A NIPA1 POLG POLG2 REEP1 SPAST RTN2 SLC33A1 SETX TWNK WASHC5 Alternate Gene Name GSAS, PYCS, SPG3, SPG3A, GNG3LG, SPG17, IOSCA, SPG13[sickkids.ca] GJC2 KIF1A KIF1C NT5C2 PGAP1 PNPLA6 SACS SPG11 SPG20 SPG21 SPG7 TECPR2 VPS37A ZFYVE26 L1CAM PLP1 SLC16A2 Alternate Gene Name GSAS, PYCS, SPG3, SPG3A, GNG3LG, SPG17, IOSCA, SPG13[sickkids.ca]

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  • Neuronal Ceroid Lipofuscinosis

    […] and the neurological disorder.[academic.oup.com] These common mutations are IVS5-1G C and R208X (636C T) in CLN2. 10 Analyses were conducted by allele specific PCR.[doi.org] EEG in autosomal dominant neuronal ceroid lipofuscinosis is dominated by generalised periodic epileptiform discharges (GPEDs, or GPD ).[ncbi.nlm.nih.gov] Spectrin-associated autosomal recessive cerebellar ataxia type 1 Speech and language disorder with orofacial dyspraxia Speech-language disorder type 1 SPENCD SPG1 SPG10 SPG11 SPG12 SPG13[csbg.cnb.csic.es] We describe a family with adult neuronal ceroid lipofuscinosis, with apparent autosomal dominant inheritance, observed in six affected individuals in three generations.[ncbi.nlm.nih.gov]

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  • Scapuloperoneal Spinal Muscular Atrophy

    […] encompasses all disorders of the peripheral nervous system, covering all aspects of neuromuscular diseases from diagnosis to treatment.[books.google.de] Here we report that SPSMA and CMT2C are allelic disorders caused by mutations in the gene encoding the transient receptor potential cation channel, subfamily V, member 4 ([ncbi.nlm.nih.gov] The disorder should be considered in scapuloperoneal syndromes with autosomal dominant inheritance and a neurogenic pattern.[ncbi.nlm.nih.gov] […] recessive cerebellar ataxia type 1 Speech and language disorder with orofacial dyspraxia Speech-language disorder type 1 SPENCD Spermatocytic seminoma SPG SPG1 SPG10 SPG11 SPG12 SPG13[orpha.net] Calculations with markers used the current allele frequencies determined from analysis of eight CEPH families.[academic.oup.com]

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  • X-Linked Spastic Paraplegia Type 2

    Some neuromuscular disorders are autoimmune diseases . Sometimes the cause is not known. Many neuromuscular diseases have no cure.[medlineplus.gov] X-inactivation study and sequencing of the undeleted PLP1 alleles failed to explain the differences in severity between the two female patients.[ncbi.nlm.nih.gov] The majority of autosomal dominant HSP is uncomplicated, but complicated autosomal dominant forms also exist.[invitae.com] 138250}) on 10q24; SPG10 ({604187}), caused by mutation in the KIF5A gene ({602821}) on 12q13; SPG12 ({604805}), caused by mutation in the RTN2 gene ({603183}) on 19q13; SPG13[diseaseinfosearch.org] Abstract Spastic paraplegia type 2 (SPG2) is allelic to Pelizaeus-Merzbacher disease (PMD), with both conditions resulting from mutations in the proteolipid protein gene ([ncbi.nlm.nih.gov]

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  • Autosomal Dominant Spastic Paraplegia Type 31

    In 1977 he joined the faculty of Baylor College of Medicine and became a founder and director of the Parkinson's Disease Center and Movement Disorders Clinic, which has since[books.google.com] Additionally, we found two further polymorphisms in intron 6 (c.595T G) and the 3'UTR (c.606 155T C) in four of the 162 patients in heterozygous state (allele frequency 1.2%[bmcmedgenet.biomedcentral.com] Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 31 Disease definition A rare type of hereditary spastic paraplegia usually[orpha.net] In addition, SPG6 (NIPA1), SPG8 (KIAA0196), SPG10 (KIF5A), SPG13 (HSPD1), SPG17 (BSCL2), SPG31 (REEP1) and SPG33 (ZFYVE27) can be analyzed.[omicsonline.org] Other genes involved in autosomal dominant HSPs are SPG8, SPG10, SPG13, SPG31, and SPG33. SPG5, SPG7, and SPG11 are involved in autosomal recessive HSPs.[emedicine.medscape.com]

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  • Autosomal Dominant Spastic Paraplegia Type 8

    She has always had a great interest in movement disorders with focus on movement disorder genetics and electrophysiology.[books.google.com] 116 Epidemiology: Kuwait & Israel families; 4 patients Genetics Inheritance: Recessive Mutations: Homozygous frameshift (c.51_64delAGGTGGGGGTCCCC) or Missense (c.146G C) Allelic[neuromuscular.wustl.edu] WHO-ICD-10 version:2010 Diseases of the nervous system Systemic atrophies primarily affecting the central nervous system Mode of Inheritance Autosomal dominant Gene Map Locus[cags.org.ae] AD Gene Name ALDH18A1 ATL1 BSCL2 HSPD1 KIF5A NIPA1 POLG POLG2 REEP1 SPAST RTN2 SLC33A1 SETX TWNK WASHC5 Alternate Gene Name GSAS, PYCS, SPG3, SPG3A, GNG3LG, SPG17, IOSCA, SPG13[sickkids.ca] Hazan J, Fonknechten N, Mavel D et al (1999) Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.[link.springer.com]

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  • X-linked Parkinsonism-Spasticity Syndrome

    Kompoliti’s include the gender differences in Parkinson’s disease and other movement disorders, studies to define the effect of neuroleptics on weight, risk for diabetes and[books.google.com] They postulate that an interaction with the allelic variant of EAAT2 and the unknown primary genetic defect may be responsible for the phenotypic variation seen within their[jnnp.bmj.com] Dominant Whispering Dysphonia Reported in one large Australian family DYT-5 A (GCH1) B (TH) 14q22.1-q22.2 Dopa Responsive Dystonia; Segawa Syndrome A is Autosomal Dominant[cmdg.org] Other genes involved in autosomal dominant HSPs are SPG8, SPG10, SPG13, SPG31, and SPG33. SPG5, SPG7, and SPG11 are involved in autosomal recessive HSPs.[emedicine.medscape.com] In addition, SPG6 (NIPA1), SPG8 (KIAA0196), SPG10 (KIF5A), SPG13 (HSPD1), SPG17 (BSCL2), SPG31 (REEP1) and SPG33 (ZFYVE27) can be analyzed.[omicsonline.org]

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