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Molecular Research of Dystonia and Parkinson’s Disease
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Molecular Research of Dystonia and Parkinson’s Disease

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 30 June 2025 | Viewed by 414

Special Issue Editor

Dr. Ryoma Morigaki

E-Mail Website
Guest Editor
Department of Advanced Brain Research, Institute of Biomedical Sciences, Graduate School of Medicine, Tokushima University, 3-18-15 Kuramoto-Cho, Tokushima-Shi 770-8503, Tokushima, Japan
Interests: basal ganglia; striatum; striosome and matrix; deep brain stimulation; Parkinson’s disease; dystonia
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Dystonia and Parkinson's disease are prominent movement disorders, yet their pathophysiology remains incompletely understood. Genetic studies have provided valuable insights, highlighting the roles of specific mutations, such as those in TOR1A and GNAL in dystonia and SNCA and LRRK2 in Parkinson's disease. However, the complexity of these disorders might arise from the interplay between genetic predisposition and environmental factors.

Dystonia encompasses hereditary, idiopathic, and acquired forms, including tardive dystonia induced by antipsychotic drugs, which offers insights into neuroplasticity and dopamine receptor dysfunction. Environmental factors such as stress, trauma, and infections are also implicated in its onset. In Parkinson's disease, exposure to pesticides and heavy metals has been identified as a risk factor. Recent evidence suggests that α-synuclein aggregates, a hallmark of Parkinson’s disease, may propagate from the enteric nervous system to the brain via the vagus nerve in some cases, emphasizing the potential role of the gut–brain axis.

Despite these etiological diversities, each disease presents with similar clinical phenotypes, suggesting common underlying pathophysiological mechanisms. Deep brain stimulation has proven highly effective in managing severe cases of both disorders, irrespective of their etiologies, indicating that both are rooted in dysfunctions of brain circuit loops. It is hypothesized that diverse molecular and cellular alterations ultimately converge on circuit-level dysfunction. However, the mechanisms linking molecular abnormalities to circuit dysfunction remain largely elusive and warrant further investigation.

This Special Issue aims to update the molecular, cellular, and circuit-level mechanisms underlying both diseases, fostering new perspectives and advancing therapeutic strategies.

Dr. Ryoma Morigaki
Guest Editor

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Keywords

  • dystonia
  • Parkinson’s disease
  • molecular mechanism
  • molecular pathology
  • cell biology
  • genetic predisposition to disease
  • physiopathology
  • neural plasticity
  • animal models
  • biomedical translational science

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Published Papers (2 papers)

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11 pages, 1327 KiB  
Article
Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase
by Feda E. Mohamed, Lara Alzyoud, Mohammad A. Ghattas, Mohammed Tabouni, André Fienemann, Joanne Trinh, Ibrahim Baydoun, Praseetha Kizhakkedath, Hiba Alblooshi, Qudsia Shaukat, Rim Amouri, Matthew J. Farrer, Samia Ben Sassi and Fatma Al-Jasmi
Int. J. Mol. Sci. 2025, 26(7), 3056; https://doi.org/10.3390/ijms26073056 - 27 Mar 2025
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Abstract
Sepiapterin Reductase Deficiency (SRD) is a rare inherited neurometabolic disorder caused by variants in the SPR gene, which may lead to developmental delays, psychomotor retardation, and cognitive impairments. Two consanguineous North African and Middle Eastern families are reported with multiple affected individuals presenting [...] Read more.
Sepiapterin Reductase Deficiency (SRD) is a rare inherited neurometabolic disorder caused by variants in the SPR gene, which may lead to developmental delays, psychomotor retardation, and cognitive impairments. Two consanguineous North African and Middle Eastern families are reported with multiple affected individuals presenting with developmental delay, ataxia, hypotonia, fatigue, and ptosis, or parkinsonism and cognitive impairment. Exome sequencing revealed a novel homozygous SPR c.560A>G (p.Glu187Gly) mutation that segregates with disease. According to molecular dynamics analysis, the substitution is predicted to compromise structural integrity, likely affecting ligand binding and catalytic activity. Elevated cerebrospinal fluid sepiapterin and biopterin levels, along with low neurotransmitter levels, were concordant with a genetic diagnosis of SRD and the reclassification of this variant as pathogenic. SRD patients manifest a broad constellation of symptoms, albeit well-managed using low-dose L-dopa/carbidopa. This study highlights the value of genetic testing in expediting early diagnosis and intervention to mitigate the onset of this disorder. Full article
(This article belongs to the Special Issue Molecular Research of Dystonia and Parkinson’s Disease)
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Review

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17 pages, 3286 KiB  
Review
Genotype–Phenotype Relations for the Dystonia-Parkinsonism Genes GLB1, SLC6A3, SLC30A10, SLC39A14, and PLA2G6: MDSGene Systematic Review
by Jon Rodriguez-Antiguedad, Rajasumi Rajalingam, Clara Krüger, Daniel Teixeira-dos-Santos, Christine Sun, Elias Fernandez-Toledo, Alexia Duarte, Paula Saffie-Awad, Matthew J. Barrett, Joseph L. Flanigan, Maziar Emamikhah, Neepa Patel, Marta San Luciano, Christine Cooper, Natascha Bahr, Odinachi Oguh, Alissa Buhrmann, Merle Vater, Rabea Fuchshofen, Franca Vulinovic, Maik-Iven Parreidt, Anne Weissbach, Katja Lohmann, Christine Klein, Connie Marras and Sarah Camargosadd Show full author list remove Hide full author list
Int. J. Mol. Sci. 2025, 26(9), 4074; https://doi.org/10.3390/ijms26094074 - 25 Apr 2025
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Abstract
The Movement Disorders Society recommends the DYT/PARK prefix for genes where dystonia and parkinsonism are prominent in approximately half or more of patients. This systematic review explores the genotype–phenotype correlations of GLB1, SLC6A3, SLC30A10, PLA2G6, and SLC39A14—recently classified [...] Read more.
The Movement Disorders Society recommends the DYT/PARK prefix for genes where dystonia and parkinsonism are prominent in approximately half or more of patients. This systematic review explores the genotype–phenotype correlations of GLB1, SLC6A3, SLC30A10, PLA2G6, and SLC39A14—recently classified as DYT SLC39A14 and historically linked to dystonia-parkinsonism. We searched PubMed and the Human Gene Mutation Database using standardized terms, including English-language, peer-reviewed publications up to February 2024. Following the MDSGene protocol, we extracted individual-level data on patients with biallelic pathogenic variants and at least one movement disorder. Features were marked “missing” if not explicitly reported. Of 1828 articles, 128 were eligible. We identified 386 patients and 262 variants. The median age at onset was 3 years for GLB1, 3 months for SLC6A3, 2.5 years for SLC30A10, 1.5 years for SLC39A14, and 16 years for PLA2G6. Missing data may reflect underreporting of negative findings. Case reports/serie, may bias toward atypical presentations. Our analysis showed dystonia-parkinsonism predominates in SLC6A3 and PLA2G6, while GLB1, SLC30A10, and SLC39A1 show predominantly dystonic phenotypes with a low frequency of parkinsonism. Ataxia was common in GLB1 and PLA2G6. Awareness of these phenotypes is essential for early diagnosis and intervention, particularly in treatable conditions like SLC30A10 or SLC39A14. The predominantly dystonic phenotype in GLB1, SLC30A10, and SLC39A14 suggest that the DYT prefix may be more appropriate, highlighting the need to reconsider their nomenclature, and the importance of systematic reviews. Full article
(This article belongs to the Special Issue Molecular Research of Dystonia and Parkinson’s Disease)
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