Special Issues

Special Issue Title: Genetics of neurological diseases

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· Deadline for manuscript submissions: 1 July 2020

Special Issue Editor

Guest Editor

Dr. Alisdair McNeill

Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, UK

Website | E-Mail

Interests: Brain, genetics, exome, genome, risk factor, rare disease

Special Issue Information

Dear Colleagues,

Genetic variants contribute to the aetiology of diseases of both the central and peripheral nervous system. This issue aims to update readers on clinical implications of recent neurogenetic discoveries, the genetic testing technologies involved and possible new treatment approaches. The genetic contribution ranges from variants in single genes which completely explain disease onset, such as in Huntington disease, to genetic variants which increase the risk of neurological disease by interacting with environmental factors, such as APOE in Alzheimer’s disease. This issue seeks submissions on 3 groups of neurogenetic disorders. Firstly, it will review recent advances in identifying single gene causes of neurological disorders in both children and adults, with descriptions of the associated phenotypes. We also seek papers, which discuss genetic risk factors for neurological disease, such as those identified through Genome Wide Association Studies (GWAS) for Alzheimer’s disease and Parkinson’s disease, or genetic factors which influence symptomatology or disease course. Papers which describe neurological manifestations of rare genetic/metabolic disorders will also be of great interest; for example descriptions of movement disorders in lysosomal storage disorders. The technology which underpins advances in our understanding of neurogenetic disease are also sought. We seek papers which will help clinicians understand the applications and limitations of exome and genome sequencing. These genetic discoveries have opened up new avenues suggesting approaches to treatment, such as gene therapy and enzyme replacement therapy. Papers describing precision medicine approaches, based upon genotype, are especially welcome. Original research reports, review articles, communications, and perspectives are welcome in all areas pertinent to the topic. 

Dr. Alisdair McNeill

Guest Editor


Manuscript Submission Information

Manuscripts should be submitted online at https://jour.ipublishment.com/imr/access/login by registering and logging into this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a double-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Integrative Neuroscience is an international peer-reviewed open access quarterly journal published by IMR Press.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is $1500. We normally offer a discount greater than 30% (APC: $1050) to all contributors invited by the Editor-in-Chief, Guest Editor (GE) and Editorial board member. Submitted papers should be well formatted and use good English.


Brain, genetics, exome, genome, risk factor, rare disease

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Published Papers (3 papers)
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Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene
Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
Journal of Integrative Neuroscience    2020, 19 (1): 125-129.   DOI: 10.31083/j.jin.2020.01.1239
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Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare. We encountered a consanguineous family with two cases of late-onset cerebellar ataxia with neuropathy. We performed whole-exome sequencing in one patient and confirmed by Sanger sequencing in other family members. Neurological examination revealed cerebellar ataxia, hand tremor, and neck dystonia, distal muscle wasting, and diminished tendon reflexes. The patients had no conjunctival telangiectasia or immunodeficiency. Blood examination revealed slightly elevated α-fetoprotein. Brain MRI demonstrated marked cerebellar atrophy and mild brainstem atrophy. The electrophysiologic study and nerve biopsy showed axonal neuropathy. Whole-exome sequencing revealed a novel homozygous missense variant (NM_000051.3: c.496G > C) in the ataxia-telangiectasia mutated gene. This homozygous variant was found in another patient, co-segregated within the family members—this variant results in aberrant splicing (skipping exon 5) on RT-PCR analysis. We identified the ataxia-telangiectasia mutated variant in an adult, late-onset autosomal recessive cerebellar ataxias family. We should consider ataxia-telangiectasia even in late-onset autosomal recessive cerebellar ataxias without telangiectasia or immunodeficiency.

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Neurodegenerative diseases and cancer: sharing common mechanisms in complex interactions
Natalia González Rojas, Martin Cesarini, José Luis Etcheverry, Gustavo Andrés Da Prat, Valeria Antico Arciuch, Emilia Mabel Gatto
Journal of Integrative Neuroscience    2020, 19 (1): 187-199.   DOI: 10.31083/j.jin.2020.01.3
Abstract1485)   HTML64)    PDF(pc) (1318KB)(870)       Save

Several epidemiological studies support low cancer rates in patients with neurodegenerative disorders, including Parkinson's disease, Huntington's disease, and Alzheimer's disease. Different mechanisms were raised as possible causes, from mutated tumor suppressor genes (PARKIN, PINK1) to small interfering RNA based on the CAG trinucleotide repeat expansions located in introns or untranslated regions. However, as every rule has an exception, some tumors have an increased incidence in these neurodegenerative diseases such as breast and skin cancer (melanoma). This mini-review aims to establish the epidemiology between these neurodegenerative disorders and cancer to determine the possible mechanisms involved and therefore set eventual therapeutic applications. According to our findings, we conclude the presence of an inverse relationship among most cancers and the aforementioned neurodegenerative disorders. However, this concept needs to be considered cautiously considering specific genetic and extra-genetic linkage factors for particular tumors.

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Genetic factors related to the immune system in subjects at risk of developing Alzheimer's disease
Michał Prendecki, Marta Kowalska, Urszula Łagan-Jędrzejczyk, Thomas Piekut, Aleksandra Krokos, Wojciech Kozubski, Jolanta Dorszewska
Journal of Integrative Neuroscience    2020, 19 (2): 359-371.   DOI: 10.31083/j.jin.2020.02.110
Abstract329)   HTML25)    PDF(pc) (299KB)(584)       Save
Alzheimer's disease is the most common neurodegenerative disease and the cause of dementia. Although the pathomechanisms underlying Alzheimer's disease have not been fully elucidated, there is evidence that genetic and environmental factors contribute to its development. Immune system changes, both environmentally-induced and, as a result of predisposing genetics, are implicated in Alzheimer's disease etiopathogenesis. Genes associated with immune system dysfunction in Alzheimer's disease include CLU, BIN1, CR1, ABCA7, HLA-DRB1, TREM2, EPHA1, and CD2AP. In particular, BIN1 and CLU, aberrations in which are thought to promote neurodegeneration by dysregulating exocytosis and immune processes, together with the E4 variant of the APOE gene, are among the most common genetic risk factors for Alzheimer's disease. While the relationships between these genes in Alzheimer's disease have been examined, little information exists regarding their role as variables predisposing first or second-degree relatives of Alzheimer's disease patients to the illness. The rationale of this review is to suggest that individuals with a family history of Alzheimer's disease who have the BIN1-T/T variant may be at significant risk of developing Alzheimer's disease. Also, the unfavorable BIN1-T variant is independent of APOE E4-associated risk. People at risk of developing Alzheimer's disease are more often carriers of the protective C-variant of the CLU gene, the presence of which might be associated with later-onset dementia observable within this high-risk group. It seems BIN1 and CLU together with, albeit independent of APOE E4, may be among the factors predisposing individuals with a family history of Alzheimer's disease to developing the illness.
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