The role of hereditary spastic paraplegia related genes in multiple sclerosis

2007 ◽  
Vol 254 (9) ◽  
pp. 1221-1226 ◽  
Author(s):  
G. C. DeLuca ◽  
S. V. Ramagopalan ◽  
M. Z. Cader ◽  
D. A. Dyment ◽  
B. M. Herrera ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

scholarly journals Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation

Autophagy ◽  
2021 ◽  
pp. 1-17
Author(s):  
Mukhran Khundadze ◽  
Federico Ribaudo ◽  
Adeela Hussain ◽  
Henry Stahlberg ◽  
Nahal Brocke-Ahmadinejad ◽  
...  
Keyword(s):  
Mouse Models ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

scholarly journals Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia

Cells ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 1678
Author(s):  
Liriopé Toupenet Marchesi ◽  
Marion Leblanc ◽  
Giovanni Stevanin
Keyword(s):  
Nervous System ◽  
Motor Neurons ◽  
Neurological Disorders ◽  
Hereditary Spastic Paraplegia ◽  
Current Knowledge ◽  
Spastic Paraplegia ◽  
Functional Convergence ◽  
The Common ◽  
Hsp Genes

Hereditary spastic paraplegia (HSP) refers to a group of neurological disorders involving the degeneration of motor neurons. Due to their clinical and genetic heterogeneity, finding common effective therapeutics is difficult. Therefore, a better understanding of the common pathological mechanisms is necessary. The role of several HSP genes/proteins is linked to the endolysosomal and autophagic pathways, suggesting a functional convergence. Furthermore, impairment of these pathways is particularly interesting since it has been linked to other neurodegenerative diseases, which would suggest that the nervous system is particularly sensitive to the disruption of the endolysosomal and autophagic systems. In this review, we will summarize the involvement of HSP proteins in the endolysosomal and autophagic pathways in order to clarify their functioning and decipher some of the pathological mechanisms leading to HSP.

scholarly journals A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Nathaniel M. Robbins ◽  
Jillian R. Ozmore ◽  
Thomas L. Winder ◽  
Pedro Gonzalez-Alegre ◽  
Tanya M. Bardakjian
Keyword(s):  
Splice Site ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraparesis ◽  
Spastic Paraplegia ◽  
Novel Variant ◽  
Consensus Splice Site ◽  
Diagnostic Work ◽  
Next Generation Sequencing Ngs ◽  
Work Up

Some causes of spastic paraplegia are treatable and many are not. Diagnostic work-up to determine the etiology can be costly and invasive. Here we report the case of a man with slowly progressive spastic paraparesis. Using a multigene next-generation sequencing (NGS) panel, we identified a novel variant in the consensus splice site of the SPAST gene (exon 13, c.1536G>A, heterozygous), affecting codon 512 of the SPAST mRNA. The observed variant segregated with the disease in four tested family members. In this case, genetic confirmation obviated the need for additional testing such as MRI and lumbar puncture and helped the patient and his family understand his condition and prognosis. We conclude with a brief discussion of the SPG4/SPAST gene and the role of multigene panels in the diagnosis and management of hereditary spastic paraplegia.

Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012836
Author(s):  
Darius Ebrahimi-Fakhari ◽  
Julian E Alecu ◽  
Marvin Ziegler ◽  
Gregory Geisel ◽  
Catherine Jordan ◽  
...  
Keyword(s):  
White Matter ◽  
Corpus Callosum ◽  
Brain Development ◽  
Hereditary Spastic Paraplegia ◽  
Anterior Commissure ◽  
Brain Mri ◽  
Adaptor Protein ◽  
Spastic Paraplegia ◽  
Mri Findings

Background and Objectives:AP-4-associated hereditary spastic paraplegia (AP-4-HSP: SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary spastic paraplegia and mimic of cerebral palsy. This study aims to define the spectrum of brain MRI findings in AP-4-HSP and to investigate radio-clinical correlations.Methods:A systematic qualitative and quantitative analysis of 107 brain MRI studies from 76 individuals with genetically-confirmed AP-4-HSP and correlation with clinical findings including surrogates of disease severity.Results:We define AP-4-HSP as a disorder of gray and white matter and demonstrate that abnormal myelination is common and that metrics of reduced white matter volume correlate with severity of motor symptoms. We identify a common diagnostic imaging signature consisting of (1) a thin splenium of the corpus callosum, (2) an absent or thin anterior commissure, (3) characteristic signal abnormalities of the forceps minor (“ears of the grizzly sign”), and (4) periventricular white matter abnormalities. The presence of two or more of these findings has a sensitivity of ∼99% for detecting AP-4-HSP, while the combination of all four is found in ∼45% of cases. Compared to other HSP with a thin corpus callosum, the absent anterior commissure appears to be specific to AP-4-HSP. Our analysis further identified a subset of AP-4-HSP patients with polymicrogyria, underscoring the role of AP-4 in early brain development. Of clinical importance, these patients displayed a higher prevalence of seizures and status epilepticus, many at a young age.Discussion:Our findings define the MRI spectrum of AP-4-HSP providing opportunities for early diagnosis, identification of individuals at risk for complications, and a window into the role of the AP-4 complex in brain development and neurodegeneration.

scholarly journals The Role of ZFYVE27/Protrudin in Hereditary Spastic Paraplegia

2008 ◽  
Vol 83 (1) ◽  
pp. 127-128 ◽  
Author(s):  
Monica Martignoni ◽  
Elena Riano ◽  
Elena I. Rugarli
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

MEP recruitment curves in multiple sclerosis and hereditary spastic paraplegia

2005 ◽  
Vol 237 (1-2) ◽  
pp. 25-29 ◽  
Author(s):  
L.M. Jørgensen ◽  
J.E. Nielsen ◽  
M. Ravnborg
Keyword(s):  
Multiple Sclerosis ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation

2014 ◽  
Vol 21 (2) ◽  
pp. e14-e15 ◽  
Author(s):  
A. Romagnolo ◽  
S. Masera ◽  
A. Mattioda ◽  
G. Superti ◽  
F. M. Santorelli ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia
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