Sporadic amyotrophic lateral sclerosis

An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report

Objective(s): Amyotrophic lateral sclerosis (ALS), a fatal progressive neurodegenerative disorder, is the most common motor neuron disease in European populations. Approximately 10% of ALS cases are familial (FALS) and the other patients are considered as sporadic ALS (SALS). Among many ALS causing genes that have been identified, mutations in SOD1 and C9orf72 are the most common genetic causes...

The risk to relatives of patients with sporadic amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis is a neurodegenerative disease of motor neurons with a median survival of 2 years. Most patients have no family history of amyotrophic lateral sclerosis, but current understanding of such diseases suggests there should be an increased risk to relatives. Furthermore, it is a common question to be asked by patients and relatives in clinic. We therefore set out to det...

Conjugal amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a disease characterized by progressive degeneration of motor neurons in the motor cortex, brainstem, and spinal cord. The incidence of sporadic ALS is 1.5 to 2.7 in 100,000, and the prevalence is 5.2 to 6.0 in 100,000. Conjugal ALS is even rarer than sporadic ALS. We report a case of conjugal ALS encountered in our outpatient neurology clinic.

Changes in Motor Unit Loss and Axonal Regeneration Rate in Sporadic and Familiar Amyotrophic Lateral Sclerosis (ALS) — Possible Different Pathogenetic Mechanisms?

Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation

AIMS Five to 10% of cases of amyotrophic lateral sclerosis are familial, with the most common genetic causes being mutations in the C9ORF72, SOD1, TARDBP and FUS genes. Mutations in the angiogenin gene, ANG, have been identified in both familial and sporadic patients in several populations within Europe and North America. The aim of this study was to establish the incidence of ANG mutations in ...

[Amyotrophic lateral sclerosis in totally locked-in state].

Seven autopsy patients with amyotrophic lateral sclerosis (ALS) in totally locked-in state (TLS) were examined neuropathologically. The patients were composed of 4 males and 3 females, and 3 with familial, 1 sporadic but with mutation in SOD1 gene, and 3 sporadic patients with unremarkable gene mutation. The brains weighed 715, 783, 1,019, 1,050, 1,170, 1,190 or 1,233 g. The tegmentum of the br...