Abstract |
alpha-Fetoprotein (AFP) is a biomarker of several autosomal recessive cerebellar ataxias (ARCAs), especially ataxia telangiectasia (AT) and ataxia with oculomotor apraxia (AOA) type 2 (AOA2). More recently, slightly elevated AFP has been reported in AOA1 and AOA4. Interestingly, AOA1, AOA2, AOA4, and AT are overlapping ARCAs characterized by oculomotor apraxia, with oculocephalic dissociation, choreo- dystonia, and/or axonal sensorimotor neuropathy, in addition to cerebellar ataxia with cerebellar atrophy. The genetic backgrounds in these disorders play central roles in nuclear maintenance through DNA repair [ATM (AT), APTX (AOA1), or PNKP (AOA4)] or RNA termination [SETX (AOA2)]. Partially discriminating thresholds of AFP have been proposed as a way to distinguish between ARCAs with elevated AFP. In these entities, elevated AFP may be an epiphenomenon as a result of liver transcriptional dysregulation. AFP is a simple and reliable biomarker for the diagnosis of ARCA in performance and interpretation of next-generation sequencing. Here, we evaluated clinical, laboratory, imaging, and molecular data of the group of ARCAs that share elevated AFP serum levels that have been described in the past two decades. © 2020 International Parkinson and Movement Disorder Society.
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Authors | Mathilde Renaud, Christine Tranchant, Michel Koenig, Mathieu Anheim |
Journal | Movement disorders : official journal of the Movement Disorder Society
(Mov Disord)
Vol. 35
Issue 12
Pg. 2139-2149
(12 2020)
ISSN: 1531-8257 [Electronic] United States |
PMID | 33044027
(Publication Type: Journal Article, Review)
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Copyright | © 2020 International Parkinson and Movement Disorder Society. |
Chemical References |
- APTX protein, human
- Biomarkers
- DNA-Binding Proteins
- Multifunctional Enzymes
- Nuclear Proteins
- alpha-Fetoproteins
- PNKP protein, human
- Phosphotransferases (Alcohol Group Acceptor)
- SETX protein, human
- DNA Helicases
- RNA Helicases
- DNA Repair Enzymes
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Topics |
- Ataxia Telangiectasia
(diagnosis, genetics)
- Biomarkers
- Cerebellar Ataxia
(diagnosis, genetics)
- Cogan Syndrome
- DNA Helicases
- DNA Repair Enzymes
- DNA-Binding Proteins
- Humans
- Multifunctional Enzymes
- Nuclear Proteins
- Phosphotransferases (Alcohol Group Acceptor)
- RNA Helicases
- alpha-Fetoproteins
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