Erratum to “The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients” Molecular Genetics and Metabolism (2012) [34–43]

The system of assigning locus symbols to specify chromosomal regions that are associated with a familial disorder has a number of problems when used as a reference list of genetically determined disorders,including (I) erroneously assigned loci, (II) duplicated loci, (III) missing symbols or loci, (IV) unconfirmed loci and genes, (V) a combination of causative genes and risk factor genes in the same list, and (VI) discordance between phenotype and list assignment. In this article, we report on the recommendations of the International Parkinson and Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders and present a system for naming genetically determined movement disorders that addresses these problems. We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited ataxia, spastic paraparesis, chorea, paroxysmal movement disorders, neurodegeneration with brain iron accumulation, and primary familial brain calcifications. This system provides a resource for clinicians and researchers that, unlike the previous system, can be considered an accurate and criterion-based list of confirmed genetically determined movement disorders at the time it was last updated.

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“…Pyruvate dehydrogenase deficiency: paroxysmal episodes of ataxia, dystonia, occasionally parkinsonism…”

Section: Applying the Recommendationsmentioning

confidence: 99%

“…Additional clinical features:developmental delay/intellectual disability, encephalopathy, truncal hypotonia, seizures, microcephaly, spasticity, facial dysmorphism, peripheral neuropathy…”

Section: Applying the Recommendationsmentioning

confidence: 99%

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

et al. 2016

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Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?

Fonzo

Monfrini

Erro

2018

Curr Neurol Neurosci Rep

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Alterations in the E3 ligases Parkin and CHIP result in unique metabolic signaling defects and mitochondrial quality control issues

Lizama

Palubinsky

McLaughlin

2018

Neurochemistry International

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E3 ligases are essential scaffold proteins, facilitating the transfer of ubiquitin from E2 enzymes to lysine residues of client proteins via isopeptide bonds. The specificity of substrate binding and the expression and localization of E3 ligases can, however, endow these proteins with unique features with variable effects on mitochondrial, metabolic and CNS function. By comparing and contrasting two E3 ligases, Parkin and C-terminus of HSC70-Interacting protein (CHIP) we seek to highlight the biophysical properties that may promote mitochondrial dysfunction, acute stress signaling and critical developmental periods to cease in response to mutations in these genes. Encoded by over 600 human genes, RING-finger proteins are the largest class of E3 ligases. Parkin contains three RING finger domains, with R1 and R2 separated by an in-between region (IBR) domain. Loss-of-function mutations in Parkin were identified in patients with early onset Parkinson's disease. CHIP is a member of the Ubox family of E3 ligases. It contains an N-terminal TPR domain and forms unique asymmetric homodimers. While CHIP can substitute for mutated Parkin and enhance survival, CHIP also has unique functions. The differences between these proteins are underscored by the observation that unlike Parkin-deficient animals, CHIP-null animals age prematurely and have significantly impaired motor function. These properties make these E3 ligases appealing targets for clinical intervention. In this work, we discuss how biophysical and metabolic properties of these E3 ligases have driven rapid progress in identifying roles for E3 ligases in development, proteostasis, mitochondrial biology, and cell health, as well as new data about how these proteins alter the CNS proteome.

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Erratum to “The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients” Molecular Genetics and Metabolism (2012) [34–43]

Cited by 3 publications

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Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?

Alterations in the E3 ligases Parkin and CHIP result in unique metabolic signaling defects and mitochondrial quality control issues

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