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Brain Sciences
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Advances in Genetics of Hereditary Spastic Paraplegia
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Advances in Genetics of Hereditary Spastic Paraplegia

A special issue of Brain Sciences (ISSN 2076-3425).

Deadline for manuscript submissions: closed (10 December 2018) | Viewed by 16266

Special Issue Editor

Prof. Dr. Peter Hedera

E-Mail Website
Guest Editor
Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232-8552, USA
Interests: hereditary spastic paraplegia; genotype-phenotype correlation; axonal transport; axonal degeneration; myelopathy; spasticity

Special Issue Information

Dear Colleagues,

Hereditary spastic paraplegia (HSP) is a very diverse group of genetic disorders, resulting in stereotypical and otherwise undistinguishable clinical phenotype. The recent progress in identification of the causes of HSP has been staggering, with more than 80 different disease-causing genes identified and still counting. In spite of the advances in our understanding of its pathophysiology, including axonal transport disruption, abnormal organelle morphogenesis, impaired neuronal lipid homeostasis or mitochondrial dysfunction, therapy remains purely symptomatic.

In this Special Issue on the “Advances in Genetics of Hereditary Spastic Paraplegia”, I would like to invite manuscripts on variety of topics related to various aspects of HSP research, including new insights into genetics of HSP, pathophysiology, and clinical phenomenology with genotype-phenotype correlation analysis. Works in basic, translational or clinical sciences are welcome. Hopefully, this Special Issue will be of interest for both basic scientists and clinicians working in the field of HSP and axonal degeneration. I believe that the works published in this Special issue will be another stepping stone to new insights and ultimately better therapies for patients suffering from various forms of HSP.

Prof. Dr. Peter Hedera
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. Brain Sciences is an international peer-reviewed open access monthly 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 2200 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

  • Hereditary spastic paraplegia
  • Genotype-phenotype correlation
  • Axonal degeneration
  • Spasticity

Published Papers (3 papers)

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Research

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8 pages, 815 KiB  
Article
Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I
by Peter Hedera, Paolo Moretti, Jane Howard and Jiali Zhao
Brain Sci. 2018, 8(7), 136; https://doi.org/10.3390/brainsci8070136 - 19 Jul 2018
Cited by 2 | Viewed by 3907
Abstract
Hereditary spastic paraplegia (HSP) is one of the most genetically heterogeneous neurological disorders. HSP is classified as pure when only a spastic weakness of the lower extremities is present. Complex HSP comes with additional neurological or systemic abnormalities. Complex HSP with skeletal abnormalities [...] Read more.
Hereditary spastic paraplegia (HSP) is one of the most genetically heterogeneous neurological disorders. HSP is classified as pure when only a spastic weakness of the lower extremities is present. Complex HSP comes with additional neurological or systemic abnormalities. Complex HSP with skeletal abnormalities is rare and mostly seen in autosomal recessive HSP. Autosomal dominant (AD) complex HSP with skeletal abnormalities are consistently seen only in SPG9 (spastic gait type 9). In this paper, we report a kindred condition with AD HSP among four living affected individuals who had progressive, adult onset spastic paraparesis that was associated with a distal arthrogryposis (DA) in every affected individual. They also had episodes of rhabdomyolysis without any clinical signs of myopathy. Exhaustive genetic analysis including targeted sequencing of known HSP and DA genes and whole exome sequencing did not identify the disease-causing gene. It excluded all known HSP and DA genes. We propose that this is a novel genetic type of complex AD HSP. Elucidation of a genetic cause of this type of HSP will further contribute to our understanding of axonal degeneration and skeletal abnormalities. Full article
(This article belongs to the Special Issue Advances in Genetics of Hereditary Spastic Paraplegia)
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Review

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4 pages, 519 KiB  
Review
JASPAC: Japan Spastic Paraplegia Research Consortium
by Kishin Koh, Hiroyuki Ishiura, Shoji Tsuji and Yoshihisa Takiyama
Brain Sci. 2018, 8(8), 153; https://doi.org/10.3390/brainsci8080153 - 13 Aug 2018
Cited by 38 | Viewed by 5854
Abstract
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by weakness and spasticity of the lower extremities. HSPs are heterogeneous disorders that involve over 80 causative genes. The frequency of HSPs is estimated to be 10–100/1,000,000. With this background, the Japanese [...] Read more.
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by weakness and spasticity of the lower extremities. HSPs are heterogeneous disorders that involve over 80 causative genes. The frequency of HSPs is estimated to be 10–100/1,000,000. With this background, the Japanese research group “Japan Spastic Paraplegia Research Consortium: JASPAC” was organized in 2006 to elucidate the molecular epidemiologies of HSPs in Japan and the molecular pathologies of HSPs. To date, the JASPAC has collected 714 HSP families and analyzed 488 index patients. We found 279 pathogenic variants or probable pathogenic variants of causative genes in the 488 HSP patients. According to our results, we found 178 families with autosomal dominant patients (65%), and 101 with autosomal recessive and sporadic patients (48%). We found 119 patients with SPG4, 17 with SPG3A, 15 with SPG31, 13 with SPG11, and 11 with SPG10. Other HSP genes were the cause in less than five patients. On the other hand, we could not find causative genes in 35% of the autosomal dominant patients, or 52% of the autosomal recessive and sporadic patients. We are now trying to find new causative genes and elucidate the molecular mechanisms underlying HSPs. Full article
(This article belongs to the Special Issue Advances in Genetics of Hereditary Spastic Paraplegia)
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14 pages, 525 KiB  
Review
Patient-Derived Stem Cell Models in SPAST HSP: Disease Modelling and Drug Discovery
by Gautam Wali, Carolyn M. Sue and Alan Mackay-Sim
Brain Sci. 2018, 8(8), 142; https://doi.org/10.3390/brainsci8080142 - 31 Jul 2018
Cited by 9 | Viewed by 5749
Abstract
Hereditary spastic paraplegia is an inherited, progressive paralysis of the lower limbs first described by Adolph Strümpell in 1883 with a further detailed description of the disease by Maurice Lorrain in 1888. Today, more than 100 years after the first case of HSP [...] Read more.
Hereditary spastic paraplegia is an inherited, progressive paralysis of the lower limbs first described by Adolph Strümpell in 1883 with a further detailed description of the disease by Maurice Lorrain in 1888. Today, more than 100 years after the first case of HSP was described, we still do not know how mutations in HSP genes lead to degeneration of the corticospinal motor neurons. This review describes how patient-derived stem cells contribute to understanding the disease mechanism at the cellular level and use this for discovery of potential new therapeutics, focusing on SPAST mutations, the most common cause of HSP. Full article
(This article belongs to the Special Issue Advances in Genetics of Hereditary Spastic Paraplegia)
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