Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.

Lancet Neurology
Samuel ShribmanThomas T Warner

Abstract

Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs. The pathogenic mechanism, associated clinical features, and imaging abnormalities vary substantially according to the affected gene and differentiating HSP from other genetic diseases associated with spasticity can be challenging. Next generation sequencing-based gene panels are now widely available but have limitations and a molecular diagnosis is not made in most suspected cases. Symptomatic management continues to evolve but with a greater understanding of the pathophysiological basis of individual HSP subtypes there are emerging opportunities to provide targeted molecular therapies and personalised medicine.

Citations

Aug 30, 2020·Annals of Clinical and Translational Neurology·Lu-Lu LaiXiang Lin
Nov 30, 2019·Molecular Genetics & Genomic Medicine·Wen-Jiao LuoHong-Fu Li
Jul 14, 2020·Frontiers in Neurology·Xinran MaDongsheng Fan
Jul 9, 2020·Journal of Neurology·Lotte van de VenisJorik Nonnekes
Aug 1, 2020·Archives of Disease in Childhood·Ross Simon PointonRajib Lodh
Oct 20, 2020·Frontiers in Molecular Neuroscience·Laurent GuillaudMarco Terenzio
Oct 27, 2020·Brain : a Journal of Neurology·Thomas T Warner
Nov 25, 2020·Brain : a Journal of Neurology·Jonathan De WinterJonathan Baets
Jan 14, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Sireesha MuralaPradeep C Bollu
Jan 23, 2021·AJNR. American Journal of Neuroradiology·K R ServelhereM C França
Feb 13, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Katiane R ServelhereMarcondes C França
Feb 15, 2021·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Juan Du
Feb 18, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Fabricio Diniz de LimaMarcondes C França
Mar 2, 2021·Current Neurology and Neuroscience Reports·Lydia Saputra, Kishore Raj Kumar
Apr 6, 2021·Movement Disorders Clinical Practice·Rahul GannamaniMarina A J Tijssen
Apr 23, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Anikha BelladBabylakshmi Muthusamy
Apr 25, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Flávio Moura Rezende FilhoPaola Giunti
Apr 19, 2021·Journal of the Neurological Sciences·Claudia DosiRoberta Battini
May 11, 2021·Brain : a Journal of Neurology·Manuela WiessnerJan Senderek
Aug 19, 2020·Revue neurologique·P Lallemant-Dudek, A Durr
May 28, 2021·Frontiers in Molecular Biosciences·Nimesha Tadepalle, Elena I Rugarli
Jun 30, 2021·Molecular Genetics and Metabolism·Darius Ebrahimi-FakhariPhillip L Pearl
Jul 11, 2021·The Cerebellum·Diana Maria Cubillos-ArcilaJonas Alex Morales Saute
Aug 19, 2021·Movement Disorders Clinical Practice·Marina Campins-RomeuIrene Martínez-Torres
Aug 22, 2021·Acta Neurologica Scandinavica·Markus T SainioHenna Tyynismaa
Sep 21, 2021·Orphanet Journal of Rare Diseases·Qianqian LinYing Fu
Aug 7, 2021·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Seyyed-Saleh HashemiAfagh Alavi
Sep 22, 2021·Neurology·Darius Ebrahimi-FakhariUNKNOWN International AP-4-HSP Registry and Natural History Study

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Physiotherapy Research International : the Journal for Researchers and Clinicians in Physical Therapy
D Richardson, A J Thompson
© 2021 Meta ULC. All rights reserved