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autosomal recessive 1 Spinocerebellar ataxia

A hereditary autosomal recessive spinocerebellar ataxia characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor PERIPHERAL NEUROPATHIES, and increased serum ALPHA-FETOPROTEIN. Associated with mutations in the SETX gene. OMIM: 606002
Also Known As:
Spinocerebellar ataxia, autosomal recessive 1; Ataxia with Oculomotor Apraxia; Ataxia-ocular apraxia 2; Ataxia-oculomotor apraxia 2; SCAN2; SCAR1; Spinocerebellar Ataxia with Axonal Neuropathy Type 2; Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1
Networked: 84 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1. Autosomal Recessive 2 Spinocerebellar Ataxia
2. Cerebellar Ataxia (Dysmetria)
3. Apraxias (Dyspraxia)
4. Atrophy
5. Ataxia (Dyssynergia)

Experts

1. Koenig, Michel: 5 articles (12/2020 - 03/2004)
2. Tranchant, Christine: 4 articles (12/2020 - 03/2004)
3. Lavin, Martin F: 4 articles (06/2019 - 05/2006)
4. Anheim, Mathieu: 3 articles (12/2020 - 07/2008)
5. Brice, A: 3 articles (11/2017 - 01/2007)
6. Koenig, M: 3 articles (11/2017 - 01/2007)
7. Le Ber, I: 3 articles (11/2017 - 01/2007)
8. Machesky, Laura M: 3 articles (02/2007 - 04/2003)
9. Feng, Shuang: 2 articles (01/2021 - 10/2013)
10. Manley, James L: 2 articles (01/2021 - 10/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to autosomal recessive 1 Spinocerebellar ataxia:
1. Actin-Related Protein 2-3 Complex (Arp2 3 Complex)IBA
2. tesmilifene (DPPE)IBA
3. 2-methylcyclopentadienyl manganese tricarbonyl (MMT)IBA
4. Proteins (Proteins, Gene)FDA Link
5. DNA (Deoxyribonucleic Acid)IBA
6. alpha-Fetoproteins (alpha-Fetoprotein)IBA
7. RNA (Ribonucleic Acid)IBA
8. Polynucleotide 5'-Hydroxyl-Kinase (Kinase, Polynucleotide)IBA
11/01/2019 - "Pathogenic variants in polynucleotide kinase 3'-phosphatase (PNKP) gene have been associated with two distinct clinical presentations: autosomal recessive microcephaly, seizures, and developmental delay (MCSZ; MIM 613402) and ataxia with oculomotor apraxia type 4 (AOA4; MIM 616267). "
01/01/2019 - "A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4."
02/01/2016 - "Ataxia with oculomotor apraxia type 4 (AOA4) is an autosomal recessive (AR) disorder recently delineated in a Portuguese cohort and caused by mutations in the PNKP (polynucleotide kinase 3'-phosphatase) gene.(1) AOA4 is a progressive, complex movement disorder that includes hyperkinetic features, eye movement abnormalities, polyneuropathy, varying degrees of cognitive impairment, and obesity. "
10/01/2004 - "One complex contains known enzymes that are important for SSBR, including DNA ligase 3 (DNL3), polynucleotide kinase 3'-phosphatase, and polymerase beta; the other is a new complex that contains DNL3 and the ataxia with oculomotor apraxia type 1 (AOA) gene product aprataxin. "
01/01/2017 - "One of the most important interactions of XRCC1 is that with polynucleotide kinase/phosphatase (PNKP), a dual-function DNA kinase/phosphatase that processes damaged DNA termini and that, if mutated, results in ataxia with oculomotor apraxia 4 (AOA4) and microcephaly with early-onset seizures and developmental delay (MCSZ). "
9. RNA Helicases (RNA Helicase)IBA
10. Biomarkers (Surrogate Marker)IBA

Therapies and Procedures

1. Transcranial Direct Current Stimulation
2. Transjugular Intrahepatic Portasystemic Shunt
3. Therapeutics