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Neurology International
Special Issues
The Neurogenetics of Degenerative Disorders
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The Neurogenetics of Degenerative Disorders

A special issue of Neurology International (ISSN 2035-8377).

Deadline for manuscript submissions: closed (31 August 2022) | Viewed by 16095

Special Issue Editor

Dr. Daniele Orsucci

E-Mail Website
Guest Editor
Unit of Neurology, San Luca Hospital, 55100 Lucca, Italy
Interests: mitochondrial disorders; mtDNA; neurogenetics; neurology; neuromuscular disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In the last ten years, our knowledge of the genetic basis of neurodegenerative diseases has significantly advanced. This Special Issue will revisit the neurogenetics of several of these conditions, in order to summarize the molecular studies that are available and to help the clinician to choose the correct test that should be performed in a given condition. The conditions that will be discussed here include dementias, Parkinsonisms, epileptic encephalopathies, ataxias, spastic paraparesis, and motor neuron disorders.

Dr. Daniele Orsucci
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are 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 single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Neurology International is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetics
  • neurodegeneration diseases
  • dementias
  • Parkinsonisms
  • epileptic encephalopaties
  • ataxias
  • spastic paraparesis
  • motor neuron disorders
  • diagnostic approach
  • genotype–phenotype correlations

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Published Papers (5 papers)

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Editorial

Jump to: Review, Other

1 pages, 181 KiB  
Editorial
How Next-Generation Sequencing Is Changing Clinical Neurogenetics
by Daniele Orsucci
Neurol. Int. 2021, 13(4), 569; https://doi.org/10.3390/neurolint13040056 - 4 Nov 2021
Viewed by 1995
Abstract
Until recently, most general neurologists were not interested in neurogenetics [...] Full article
(This article belongs to the Special Issue The Neurogenetics of Degenerative Disorders)

Review

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20 pages, 844 KiB  
Review
Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity
by Piervito Lopriore, Valentina Ricciarini, Gabriele Siciliano, Michelangelo Mancuso and Vincenzo Montano
Neurol. Int. 2022, 14(2), 337-356; https://doi.org/10.3390/neurolint14020028 - 2 Apr 2022
Cited by 13 | Viewed by 4058
Abstract
Ataxia is increasingly being recognized as a cardinal manifestation in primary mitochondrial diseases (PMDs) in both paediatric and adult patients. It can be caused by disruption of cerebellar nuclei or fibres, its connection with the brainstem, or spinal and peripheral lesions leading to [...] Read more.
Ataxia is increasingly being recognized as a cardinal manifestation in primary mitochondrial diseases (PMDs) in both paediatric and adult patients. It can be caused by disruption of cerebellar nuclei or fibres, its connection with the brainstem, or spinal and peripheral lesions leading to proprioceptive loss. Despite mitochondrial ataxias having no specific defining features, they should be included in hereditary ataxias differential diagnosis, given the high prevalence of PMDs. This review focuses on the clinical and neuropathological features and genetic background of PMDs in which ataxia is a prominent manifestation. Full article
(This article belongs to the Special Issue The Neurogenetics of Degenerative Disorders)
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14 pages, 454 KiB  
Review
Inherited Developmental and Epileptic Encephalopathies
by Emanuele Bartolini
Neurol. Int. 2021, 13(4), 555-568; https://doi.org/10.3390/neurolint13040055 - 3 Nov 2021
Cited by 13 | Viewed by 4167
Abstract
Epileptic encephalopathies often have a genetic etiology. The epileptic activity itself exerts a direct detrimental effect on neurodevelopment, which may add to the cognitive impairment induced by the underlying mutation (“developmental and epileptic encephalopathy”). The focus of this review is on inherited syndromes. [...] Read more.
Epileptic encephalopathies often have a genetic etiology. The epileptic activity itself exerts a direct detrimental effect on neurodevelopment, which may add to the cognitive impairment induced by the underlying mutation (“developmental and epileptic encephalopathy”). The focus of this review is on inherited syndromes. The phenotypes of genetic disorders affecting ion channels, metabolic signalling, membrane trafficking and exocytosis, cell adhesion, cell growth and proliferation are discussed. Red flags suggesting family of genes or even specific genes are highlighted. The knowledge of the phenotypical spectrum can indeed prompt the clinician to suspect specific etiologies, expediting the diagnosis. Full article
(This article belongs to the Special Issue The Neurogenetics of Degenerative Disorders)
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Other

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6 pages, 925 KiB  
Case Report
Italian Case Report with a Double Mutation in PSEN1 (K311R and E318G)
by Paola Bisceglia, Filomena Lo Vecchio, Raffaela Rita Latino, Carolina Gravina, Maria Urbano, Annamaria la Torre, Gaetano Desina, Antonio Greco, Maurizio Leone and Annibale Antonioni
Neurol. Int. 2022, 14(2), 417-422; https://doi.org/10.3390/neurolint14020034 - 16 May 2022
Cited by 2 | Viewed by 2058
Abstract
Alzheimer’s disease (AD) is the most common cause of dementia worldwide. The clinical spectrum of suspected AD has been extended from mild cognitive impairment (MCI) to preclinical AD which includes people who have typical cognitive function but harbor the underlying biological features of [...] Read more.
Alzheimer’s disease (AD) is the most common cause of dementia worldwide. The clinical spectrum of suspected AD has been extended from mild cognitive impairment (MCI) to preclinical AD which includes people who have typical cognitive function but harbor the underlying biological features of AD. We report the first case of an Italian patient affected by MCI (MMSE 24\30), characterized by a double mutation p.Lys311Arg (K311R) and p.Glu318Gly (E318G) in Presenilin-1 but with the absence of abnormal accumulation of amyloid beta. Full article
(This article belongs to the Special Issue The Neurogenetics of Degenerative Disorders)
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6 pages, 1246 KiB  
Case Report
A Rare Case of Posterior Fossa Tumor and Central Precocious Puberty: Case Presentation and Review of the Literature
by Roberta Rana, Teresa Perillo, Nicola Santoro, Federica Ortolani, Raffaella Messina, Mariachiara Resta, Ilenia Perrucci, Giuseppe Ingravallo, Gerardo Cazzato, Massimo Grassi, Sabino Pesce and Francesco Signorelli
Neurol. Int. 2021, 13(4), 535-540; https://doi.org/10.3390/neurolint13040053 - 20 Oct 2021
Cited by 1 | Viewed by 2932
Abstract
Central precocious puberty (CPP) is a condition that causes early gonadotropin-dependent sexual development; CPP is idiopathic in girls in most cases, whereas more than 50% of boys have an identifiable etiology. We conducted a qualitative systematic review following the ENTREQ (enhancing transparency in [...] Read more.
Central precocious puberty (CPP) is a condition that causes early gonadotropin-dependent sexual development; CPP is idiopathic in girls in most cases, whereas more than 50% of boys have an identifiable etiology. We conducted a qualitative systematic review following the ENTREQ (enhancing transparency in reporting the synthesis of qualitative research) framework. A search was made in MEDLINE/Pubmed and MeSH Database using the terms “precocious puberty” AND “brain tumor” OR “posterior fossa tumor” OR “cerebellar tumor” OR “infratentorial tumor”, identifying five cases of pediatric patients with infratentorial tumors and CPP and a case of cerebellar ganglioglioma without hypothalamic−pituitary−gonadal axis involvement and/or intracranial hypertension. Our work highlights the importance of a multidisciplinary approach and extensive central nervous system imaging for patients presenting with CPP in order to detect possible tumor association. Moreover, we believe that this manuscript could contribute to stimulate other research because the exact mechanism of CPP in infratentorial brain lesions has not been understood yet. Full article
(This article belongs to the Special Issue The Neurogenetics of Degenerative Disorders)
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