Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: Discrete entities or spectrum?

2005 ◽  
Vol 6 (1) ◽  
pp. 8-16 ◽  
Author(s):  
Michael J. Strong ◽  
Paul H. Gordon
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Hereditary Spastic Paraplegia ◽  
Primary Lateral Sclerosis ◽  
Spastic Paraplegia ◽  
Primary Lateral ◽  
Lateral Sclerosis

scholarly journals Alsin Related Disorders: Literature Review and Case Study with Novel Mutations

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Filipa Flor-de-Lima ◽  
Mafalda Sampaio ◽  
Nahid Nahavandi ◽  
Susana Fernandes ◽  
Miguel Leão
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Heterozygous Mutation ◽  
Sequencing Analysis ◽  
Primary Lateral Sclerosis ◽  
Spastic Paraplegia ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Primary Lateral ◽  
Lateral Sclerosis

Mutations in theALS2gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis. We present a review of the literature and the case of a 16-year-old boy who is, to the best of our knowledge, the first Portuguese case with infantile ascending hereditary spastic paraplegia. Clinical investigations included sequencing analysis of the ALS2 gene, which revealed a heterozygous mutation in exon 5 (c.1425_1428del p.G477Afs*19) and a heterozygous and previously unreported variant in exon 3 (c.145G>A p.G49R). We also examined 42 reported cases on the clinical characteristics and neurophysiological and imaging studies of patients with known ALS2 gene mutations sourced from PubMed. This showed that an overlap of phenotypic manifestations can exist in patients with infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and juvenile amyotrophic lateral sclerosis.

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.

Blenderized Tube Feeding and Enterostomy Tube Occlusions Among Adults with Amyotrophic Lateral Sclerosis and Primary Lateral Sclerosis

2021 ◽  
pp. 1-4
Author(s):  
Claire Kariya ◽  
Lisa Vardi
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Perceived Risk ◽  
Tube Feeding ◽  
Feeding Tube ◽  
Nutrition Support ◽  
Primary Lateral Sclerosis ◽  
Swallowing Difficulties ◽  
Enterostomy Tube ◽  
Primary Lateral ◽  
Lateral Sclerosis

Adults with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) may develop swallowing difficulties and elect to receive an enterostomy feeding tube for nutrition support. Blenderized tube feeding (BTF) appeals to those interested in a homemade enteral nutrition option, but there are concerns of feeding tube occlusion and limited research on this potential risk. Therefore, our purpose was to determine the frequency of, and risk factors for, feeding tube occlusions among adults with ALS or PLS who use BTF. For this retrospective study, the electronic medical records of tube-fed adults with ALS or PLS who received outpatient care at a provincial ALS clinic during a two-year period were reviewed (n = 651). There were 97 tube-fed patients identified, of which 20 (21%) used BTF. Average duration of BTF use was 11.25 ± 7.5 months. Seven subjects (35%) used BTF exclusively, while 13 (65%) used a combination of BTF and commercial enteral formula. All received BTF by gastrostomy tube, sized 14 to 24 French. BTF administration methods and compliance with water flush recommendations varied. Despite the perceived risk of feeding tube occlusions with blenderized tube feeding, no occlusions were found to have occurred in this study.

Clinicopathological features of primary lateral sclerosis are different from amyotrophic lateral sclerosis

1993 ◽  
Vol 30 (3-4) ◽  
pp. 359-364 ◽  
Author(s):  
Arthur J. Hudson ◽  
John A. Kiernan ◽  
David G. Munoz ◽  
C.Elizabeth Pringle ◽  
William F. Brown ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Clinicopathological Features ◽  
Primary Lateral Sclerosis ◽  
Primary Lateral ◽  
Lateral Sclerosis
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