Cerebellar Ataxia and Hypogonadotropic Hypogonadism

Also Known As:

Gordon Holmes Syndrome; LHRH Deficiency and Ataxia; Luteinizing Hormone-Releasing Hormone, Deficiency of, with Ataxia

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Dyskinesias: 7807
    - Ataxia: 6364
      - Cerebellar Ataxia: 1529
        Cerebellar Ataxia and Hypogonadotropic Hypogonadism: 9
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Cerebellar Diseases: 631
      - Cerebellar Ataxia: 1529
        Cerebellar Ataxia and Hypogonadotropic Hypogonadism: 9
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Dyskinesias: 7807
      - Ataxia: 6364
        Cerebellar Ataxia: 1529
        Cerebellar Ataxia and Hypogonadotropic Hypogonadism: 9
Endocrine System Diseases: 968
- Gonadal Disorders: 30
  - Hypogonadism: 6201
    - Cerebellar Ataxia and Hypogonadotropic Hypogonadism: 9
Hormones, Hormone Substitutes, and Hormone Antagonists
- Hormones: 80400
  - Peptide Hormones: 1347
    - Hypothalamic Hormones: 68
      - Pituitary Hormone-Releasing Hormones: 39
        Gonadotropin-Releasing Hormone: 10670
        Cerebellar Ataxia and Hypogonadotropic Hypogonadism: 9
Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Nerve Tissue Proteins: 2
    - Neuropeptides: 6772
      - Hypothalamic Hormones: 68
        Pituitary Hormone-Releasing Hormones: 39
        Gonadotropin-Releasing Hormone: 10670
        Cerebellar Ataxia and Hypogonadotropic Hypogonadism: 9
- Peptides: 82426

Related Diseases

1.	Ataxia (Dyssynergia)
2.	Hypogonadism (Hypergonadotropic Hypogonadism)
3.	Spinocerebellar Ataxias (Spinocerebellar Ataxia)
4.	Neurodegenerative Diseases (Neurodegenerative Disease)
5.	Hereditary Spastic Paraplegia

Experts

1.	Bernardini, Jonathan P: 1 article (01/2022)
2.	Cobbold, Simon A: 1 article (01/2022)
3.	Cotton, Thomas R: 1 article (01/2022)
4.	Lechtenberg, Bernhard C: 1 article (01/2022)
5.	Richardson, Lachlan W: 1 article (01/2022)
6.	Wang, Xiangyi S: 1 article (01/2022)
7.	Kinsella, Justin A: 1 article (04/2020)
8.	Olszewska, Diana A: 1 article (04/2020)
9.	Aguado Roca, Eva: 1 article (01/2019)
10.	Blyszcz, Tamara: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cerebellar Ataxia and Hypogonadotropic Hypogonadism:

1.	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/01/2022 - "Structural basis of K63-ubiquitin chain formation by the Gordon-Holmes syndrome RBR E3 ubiquitin ligase RNF216." 01/01/2022 - "Loss-of-function mutations in the RING-between-RING (RBR) family E3 ligase RNF216 (TRIAD3) cause Gordon-Holmes syndrome (GHS) and related neurodegenerative diseases. " 01/01/2019 - "RNF216, encoding an E3 ubiquitin ligase, has been identified as a causative gene for Gordon Holmes syndrome, characterized by ataxia, dementia, and hypogonadotropic hypogonadism. " 01/01/2019 - "TRIAD3/RNF216 E3 ligase specifically synthesises K63-linked ubiquitin chains and is inactivated by mutations associated with Gordon Holmes syndrome."
2.	UbiquitinIBA 01/01/2019 - "Mechanism and chain specificity of RNF216/TRIAD3, the ubiquitin ligase mutated in Gordon Holmes syndrome." 01/01/2019 - "TRIAD3/RNF216 E3 ligase specifically synthesises K63-linked ubiquitin chains and is inactivated by mutations associated with Gordon Holmes syndrome."
3.	Proteins (Proteins, Gene)FDA Link 04/01/2020 - "Mutations in the STIP1 homology and U-box containing protein 1 gene were first described in 2013 and lead to disorders with symptoms including ataxia and dysarthria, such as spinocerebellar autosomal-recessive ataxia type 16 (SCAR16), Gordon-Holmes syndrome, and spinocerebellar ataxia type 48. "
4.	Ligases (Synthetase)IBA 01/01/2019 - "Mechanism and chain specificity of RNF216/TRIAD3, the ubiquitin ligase mutated in Gordon Holmes syndrome."
5.	Gonadotropin-Releasing Hormone (GnRH)FDA Link 08/01/1982 - "Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency."
6.	tacrolimus binding protein 4 (FKBP52)IBA 01/01/2015 - "Boucher-Neuhäuser/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 and 56 (HSP28, DDHD1; HSP54, DDHD2; HSP56, CYP2U1), Lenz Majewski syndrome (PTDSS1), spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A), atypical haemolytic-uremic syndrome due to DGKE deficiency (DGKE). "
7.	6-bromo-2-naphthyl sulfate (BNS)IBA 06/01/2018 - "The association of early-onset cerebellar ataxia with hypogonadotropic hypogonadism is related to two syndromes, known as Gordon Holmes syndrome (GHS-ataxia and pyramidal signs with hypogonadotropic hypogonadism) and Boucher-Neuhäuser syndrome (BNS-ataxia with chorioretinal dystrophy). "
8.	neurotoxic esteraseIBA 10/01/2014 - "Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome."