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Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene.
Locci S, Bianchi S, Tessa A, Santorelli FM, Mignarri A. Locci S, et al. Clin Neurol Neurosurg. 2021 Aug;207:106763. doi: 10.1016/j.clineuro.2021.106763. Epub 2021 Jun 17. Clin Neurol Neurosurg. 2021. PMID: 34157508
Gordon Holmes syndrome (GHS) is an autosomal recessive disease characterized by cerebellar ataxia and hypogonadotropic hypogonadism. ...
Gordon Holmes syndrome (GHS) is an autosomal recessive disease characterized by cerebellar ataxia and …
PNPLA6 Disorders.
Synofzik M, Hufnagel RB, Züchner S. Synofzik M, et al. 2014 Oct 9 [updated 2021 Jun 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 Oct 9 [updated 2021 Jun 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 25299038 Free Books & Documents. Review.
Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhauser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogona …
Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhauser syndrome (cerebellar ataxia, chorioreti …
Gordon Holmes Syndrome Model Mice Exhibit Alterations in Microglia, Age, and Sex-Specific Disruptions in Cognitive and Proprioceptive Function.
George AJ, Wei W, Pyaram DN, Gomez M, Shree N, Kadirvelu J, Lail H, Wanders D, Murphy AZ, Mabb AM. George AJ, et al. eNeuro. 2024 Jan 25;11(1):ENEURO.0074-23.2023. doi: 10.1523/ENEURO.0074-23.2023. Print 2024 Jan. eNeuro. 2024. PMID: 38164552 Free PMC article.
Gordon Holmes syndrome (GHS) is a neurological disorder associated with neuroendocrine, cognitive, and motor impairments with corresponding neurodegeneration. ...
Gordon Holmes syndrome (GHS) is a neurological disorder associated with neuroendocrine, cognitive, and motor impairment …
Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings.
Calandra CR, Mocarbel Y, Vishnopolska SA, Toneguzzo V, Oliveri J, Cazado EC, Biagioli G, Turjanksi AG, Marti M. Calandra CR, et al. Mov Disord Clin Pract. 2019 Jan 16;6(3):259-262. doi: 10.1002/mdc3.12721. eCollection 2019 Mar. Mov Disord Clin Pract. 2019. PMID: 30949559 Free PMC article. No abstract available.
Gordon Holmes syndrome: finally genotype meets phenotype.
Mehmood S, Hoggard N, Hadjivassiliou M. Mehmood S, et al. Pract Neurol. 2017 Dec;17(6):476-478. doi: 10.1136/practneurol-2017-001674. Epub 2017 Sep 28. Pract Neurol. 2017. PMID: 28972031
We describe a patient with Gordon Holmes syndrome presenting with a combination of hypogonadotropic hypogonadism, ataxia and progressive cognitive decline, with distinct MRI brain findings. ...
We describe a patient with Gordon Holmes syndrome presenting with a combination of hypogonadotropic hypogonadism, ataxi …
Rare case of Gordon Holmes syndrome.
Verma R, Mehta M, Shettigar C, Singla S. Verma R, et al. BMJ Case Rep. 2018 Jun 28;2018:bcr2018225638. doi: 10.1136/bcr-2018-225638. BMJ Case Rep. 2018. PMID: 29954774 Free PMC article.
While dealing with such cases, a clinician should be aware of rare possible causes too. We report a rare case of Gordon Holmes syndrome-an autosomal recessive cerebellar ataxia with endocrinal abnormalities....
While dealing with such cases, a clinician should be aware of rare possible causes too. We report a rare case of Gordon Holmes …
A novel mutation in RNF216 gene in an Indian case with Gordon Holmes syndrome.
Bal Kallupurakkal A, Verma R, Chakraborty R. Bal Kallupurakkal A, et al. BMJ Case Rep. 2023 Nov 17;16(11):e256994. doi: 10.1136/bcr-2023-256994. BMJ Case Rep. 2023. PMID: 37977846
Identification of hypogonadism can assist in narrowing down differential diagnosis in the presentation of progressive ataxia. Gordon Holmes syndrome as described by Sir Gordon Holmes in 1908 consists of ataxia with hypogonadism. ...In this case report, we des …
Identification of hypogonadism can assist in narrowing down differential diagnosis in the presentation of progressive ataxia. Gordon …
Structural basis of K63-ubiquitin chain formation by the Gordon-Holmes syndrome RBR E3 ubiquitin ligase RNF216.
Cotton TR, Cobbold SA, Bernardini JP, Richardson LW, Wang XS, Lechtenberg BC. Cotton TR, et al. Mol Cell. 2022 Feb 3;82(3):598-615.e8. doi: 10.1016/j.molcel.2021.12.005. Epub 2022 Jan 7. Mol Cell. 2022. PMID: 34998453 Free article.
Loss-of-function mutations in the RING-between-RING (RBR) family E3 ligase RNF216 (TRIAD3) cause Gordon-Holmes syndrome (GHS) and related neurodegenerative diseases. Functionally, RNF216 assembles K63-linked ubiquitin chains and has been implicated in regulat …
Loss-of-function mutations in the RING-between-RING (RBR) family E3 ligase RNF216 (TRIAD3) cause Gordon-Holmes syndrome …
Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants - A diagnostic challenge.
Salgado P, Carvalho R, Brandão AF, Jorge P, Ramos C, Dias D, Alonso I, Magalhães M. Salgado P, et al. eNeurologicalSci. 2018 Nov 22;14:9-12. doi: 10.1016/j.ensci.2018.11.022. eCollection 2019 Mar. eNeurologicalSci. 2018. PMID: 30555943 Free PMC article.
BACKGROUND: Gordon Holmes syndrome (GHS), characterized by cerebellar ataxia and hypogonadotropic hypogonadism (HH), has been related to recessive mutations in PNPLA6 gene. ...
BACKGROUND: Gordon Holmes syndrome (GHS), characterized by cerebellar ataxia and hypogonadotrop …
51 results