Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family

2019 ◽  
Vol 81 (1-2) ◽  
pp. 87-93 ◽  
Author(s):  
Yihui Liu ◽  
Jiang Xu ◽  
Wanyun Tao ◽  
Changbiao Fu ◽  
Jiangbing Liu ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Exome Sequencing ◽  
Genetic Diagnosis ◽  
Chinese Family ◽  
Primary Lateral Sclerosis ◽  
Adult Onset ◽  
Spastic Paraplegia ◽  
Limb Weakness ◽  
Primary Lateral ◽  
Lateral Sclerosis

Background: Primary lateral sclerosis (PLS) is considered a rare variant of motor neuron disease (MND) characterized by selective upper motor neuron dysfunction leading to limb weakness, spasticity, and even bulbar symptoms. Previous studies have demonstrated that mutations in ALSIN, spastic paraplegia 7 (SPG7), TBK1, ALS2, ERLIN2, and FIG4 are responsible for PLS. Most of them occurred in childhood to young-adult onset patients. The aim of this study was to identify the genetic lesion of patients with adult-onset PLS. Methods: We applied whole-exome sequencing (WES) and MND and ataxia-related genes filtering strategies to discover the genetic factors in a Chinese adult-onset PLS family. Sanger sequencing was used in the cosegregation analysis in the affected family members. Results: A mutation (c.2219A>G/p.Y740C) in exon 17 of SPG7 was identified in an adult-onset PLS patient and cosegregated with the affected members in this family. Meanwhile, the mutation was predicted to be deleterious by 3 bioinformatics programs (Polymorphism phenotyping-2, sorting intolerant from tolerant and MutationTaster). This variant may cause the structure changes of paraplegin protein. Conclusions: We employed WES to detect a missense mutation of SPG7 gene in a PLS family. This finding expands the spectrum of known SPG7 mutations, and it may contribute to novel approaches to genetic diagnosis and counseling of families with PLS.

Upper Motor Neuron Disorders Hereditary Spastic Paraplegia and Primary Lateral Sclerosis

2017 ◽  
Author(s):  
Sabrina Paganoni ◽  
Nazem Atassi
Keyword(s):  
Motor Neuron ◽  
Hereditary Spastic Paraplegia ◽  
Disease Modeling ◽  
Primary Lateral Sclerosis ◽  
Spastic Paraplegia ◽  
Underlying Pathophysiology ◽  
Primary Lateral ◽  
Lateral Sclerosis

Upper motor neuron (UMN) syndromes are a group of rare, degenerative neurological disorders that are classified as either hereditary spastic paraplegia (HSP) or primary lateral sclerosis (PLS). Our understanding of their underlying pathophysiology is unfortunately very limited and has been a significant barrier to the development of disease-modifying treatments. Recent advances in genetics and in vitro and in vivo disease modeling have provided new insights into disease mechanisms and hold the promise to lead to the future development of mechanism-based therapies.

scholarly journals Upper Motor Neuron Disorders: Primary Lateral Sclerosis, Upper Motor Neuron Dominant Amyotrophic Lateral Sclerosis, and Hereditary Spastic Paraplegia

2021 ◽  
Vol 11 (5) ◽  
pp. 611
Author(s):  
Timothy Fullam ◽  
Jeffrey Statland
Keyword(s):  
Motor Neuron ◽  
Hereditary Spastic Paraplegia ◽  
Diagnostic Tests ◽  
Primary Lateral Sclerosis ◽  
Spastic Paraplegia ◽  
Disease Modifying ◽  
Primary Lateral ◽  
Early Phases ◽  
Lateral Sclerosis ◽  
Motor Neuron Syndrome

Following the exclusion of potentially reversible causes, the differential for those patients presenting with a predominant upper motor neuron syndrome includes primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), or upper motor neuron dominant ALS (UMNdALS). Differentiation of these disorders in the early phases of disease remains challenging. While no single clinical or diagnostic tests is specific, there are several developing biomarkers and neuroimaging technologies which may help distinguish PLS from HSP and UMNdALS. Recent consensus diagnostic criteria and use of evolving technologies will allow more precise delineation of PLS from other upper motor neuron disorders and aid in the targeting of potentially disease-modifying therapeutics.

scholarly journals Progressive brainstem pathology in motor neuron diseases: Imaging data from amyotrophic lateral sclerosis and primary lateral sclerosis

Data in Brief ◽  
2020 ◽  
Vol 29 ◽  
pp. 105229 ◽  
Author(s):  
Peter Bede ◽  
Rangariroyashe H. Chipika ◽  
Eoin Finegan ◽  
Stacey Li Hi Shing ◽  
Kai Ming Chang ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neuron ◽  
Primary Lateral Sclerosis ◽  
Imaging Data ◽  
Motor Neuron Diseases ◽  
Primary Lateral ◽  
Lateral Sclerosis

scholarly journals Demographic characteristics of patients with motor neuron disease subject to conditions of large industrial city in West Siberia

2009 ◽  
Vol 8 (3(2)) ◽  
pp. 61-66
Author(s):  
A. V. Lebedev
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
West Siberia ◽  
Age Group ◽  
Primary Lateral Sclerosis ◽  
Industrial City ◽  
Bulbar Paralysis ◽  
The Moment ◽  
Primary Lateral ◽  
Lateral Sclerosis

78 patients with motor neuron disease (MND) were examined. Prevalence of MND in urban population of Novosibirsk on 2008/01/01 is 3,46 per 100 000 of population. In majority of patients amyotrophic lateral sclerosis (ALS) was revealed — 76 people (97,4%); primary lateral sclerosis was revealed in 1 case (1,3%), progressive bulbar paralysis was revealed also in 1 case (1,3%). There were 63 men (80,8%) and 15 women (19,2%) (ratio is 4,2 : 1,0). There was no people younger than 27 years for the moment when first symptoms of the disease were revealed. The major age group was 41 to 60 years (66 people — 84,6%).

Muscle Stiffness and Cramps

2018 ◽  
Author(s):  
Aziz Shaibani
Keyword(s):  
Motor Neuron ◽  
Symptomatic Treatment ◽  
Muscle Stiffness ◽  
Spastic Paraplegia ◽  
Muscle Cramps ◽  
Peripheral Nerve Hyperexcitability ◽  
Exercise Induced ◽  
Nocturnal Cramps ◽  
Primary Lateral ◽  
Lateral Sclerosis

Muscle stiffness as a nonspecific term means limited muscle mobility. Muscle and joint pain may be described as stiffness. Painful, sustained muscle cramps are usually associated with muscle stiffness. A careful history is paramount. Exercise-induced muscle cramps are usually myopathic (metabolic or mitochondrial myopathy) while resting, and nocturnal cramps are neurogenic [neuropathy, motor neuron disease (MND), etc.]. Metabolic cramps are electrically silent. Focal or generalized stiffness is typically seen in stiff person syndrome (SPS). Upper motor neuron (UMN) lesions are associated with spasticity and stiffness [hereditary spastic paraplegia (HSP), primary lateral sclerosis (PLS), myelopathies, etc.]. Painful cramps and fasciculation are important clues to peripheral nerve hyperexcitability disorder, which may also present with neuromyotonia. Not unusually, no cause is found for muscle cramps and stiffness. Symptomatic treatment frequently helps.

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