Inflammatory radiculoneuropathy in an ALS4 patient with a novel<i>SETX</i>mutation: Figure 1

Saiga, Toru; Tateishi, Takahisa; Torii, Takako; Kawamura, Nobutoshi; Nagara, Yuko; Sekiya, Hiroshi; Hashiguchi, Akihiro; Takashima, Hiroshi; Honda, Hiroki; Ohyagi, Yasumasa; Kira, Jun Ichi

doi:10.1136/jnnp-2012-302281

Cited by 9 publications

(9 citation statements)

References 5 publications

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“…In some cases, normal lifespan or atypical features are also described [ 34 , 35 ]. A patient with SETX p.R2136C mutation presented with coexistence of ALS and inflammatory radiculoneuropathy [ 36 ]. We previously reported a missense mutation p.T1118I in a sporadic Chinese ALS patient who developed bulbar symptoms 3 years after the onset, and respiratory failure 2 years later [ 37 ].…”

Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

Genotype-phenotype correlations of amyotrophic lateral sclerosis

2016

Transl Neurodegener

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Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by progressive neuronal loss and degeneration of upper motor neuron (UMN) and lower motor neuron (LMN). The clinical presentations of ALS are heterogeneous and there is no single test or procedure to establish the diagnosis of ALS. Most cases are diagnosed based on symptoms, physical signs, progression, EMG, and tests to exclude the overlapping conditions. Familial ALS represents about 5 ~ 10 % of ALS cases, whereas the vast majority of patients are sporadic. To date, more than 20 causative genes have been identified in hereditary ALS. Detecting the pathogenic mutations or risk variants for each ALS individual is challenging. However, ALS patients carrying some specific mutations or variant may exhibit subtly distinct clinical features. Unraveling the respective genotype-phenotype correlation has important implications for the genetic explanations. In this review, we will delineate the clinical features of ALS, outline the major ALS-related genes, and summarize the possible genotype-phenotype correlations of ALS.

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Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

Genotype-phenotype correlations of amyotrophic lateral sclerosis

2016

Transl Neurodegener

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“…Полинейропатию у нашей больной исключили, но во многих случаях БАС-4 были найдены клинические, ЭНМГ-и/или патоморфологические признаки полинейропатии разной степени [16,17,[19][20][21][22][23][24], причем показано, что сенатаксин экспрессируется не только в аксонах, но и в миелиновых оболочках периферических нервов [17].…”

Section: родителей) пациентке разъяснены неспецифичный характер лечен...unclassified

Juvenile amyotrophic lateral sclerosis type 4: case report and review

Rudenskaya

Nikitin

Shatokhina

et al. 2022

Neuromuscular Diseases

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Juvenile amyotrophic lateral sclerosis (ALS) presents a group of few rare monogenic disorders with onset from early childhood up to 25 years and much more benign course than “classic” ALS. Autosomal dominant ALS type 4 (ALS4) related to SETX gene is one of them. In spite of characteristic combined involvement of central and peripheral motor neurons, ALS4 clinical diagnostics may be difficult, particularly in atypical and/or non‑familial cases and electroneuromyography underestimation. Massive parallel sequencing permits diagnosing majority of cases and performing genetic counselling in families.Aim of this work: to describe non‑familial ALS4 case detected by whole‑exome sequencing and present a review on poorly known disorder.A 21‑year‑old female patient in a consanguineous family was examined; methods: clinical, genealogical, electroneuromyography, peripheral nerves ultrasound; molecular: panel and whole‑exome sequencing, bioinformatical analysis.The girl is an only child and an only patient in a family of Mountain Jews – first cousins. She had spastic paraparesis since age of independent walking (1.5 y.o.) and early feet deformation, her first diagnosis was cerebral palsy. In 12 years spasticity progressed, walking was lost. After orthopedic surgery in 15 years supported walking restored, at that age leg distal amyotrophy developed with no further progressing. Due to electroneuromyography results polyneuropathy was misdiagnosed. In 21 years repeated electroneuromyography excluded polyneuropathy and detected generalized motor neuron impairment and juvenile ALS was suggested. On neurological examination pronounced spastic paraparesis together with peripheral leg paraparesis without sensory impairment were detected; her supported gait was of mixed spastic and paretic types; there were no fasciculations or fibrillations.Whole‑exome sequencing detected a novel heterozygous missense mutation c.4442A>G (p.Lys1481Arg) in SETX exon 10. Sanger familial sequencing was not possible, but DNA finding matching the phenotype supported ALS4 diagnosis. Juvenile ALS4 (SETX gene) is a relatively benign autosomal dominant disease, imitating in different stages other nervous disorders of early and young age; genealogy is not always informative. Along with typical cases (like our patient) clinical variability exists. Electroneuromyography is the main instrumental tool. Methods of massive parallel sequencing are optimal in DNA testing of juvenile ALS.

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“…b). Four missense mutations located in the N‐terminal (T3I, L389S) and helicase (R2136C and R2136H) domains of Senataxin have been reported to cause the dominant form of juvenile amyotrophic lateral sclerosis (ALS4) . Also, over 40 missense mutations distributed almost throughout the Senataxin protein, except for the region C‐terminal to the helicase domain, have been found to be implicated in the recessive ataxia ocular apraxia type 2 (AOA2) (http://www.omim.org/entry/606002?search=aoa2&highlight=aoa2).…”

Section: Features Of Sen1 and Its Human Homolog Senataxinmentioning

confidence: 99%

Facilitators and Repressors of Transcription‐coupled DNA Repair in Saccharomyces cerevisiae

2016

Photochem & Photobiology

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Nucleotide excision repair is a well-conserved DNA repair pathway that removes bulky and/or helix-distorting DNA lesions, such as UV-induced cyclobutane pyrimidine dimers and pyrimidine (6-4) pyrimidone photoproducts. Transcription-coupled repair (TCR) is a subpathway of nucleotide excision repair that is dedicated to rapid removal of DNA lesions in the transcribed strand of actively transcribed genes. In eukaryotic cells, TCR is triggered by RNA polymerase II (RNAP II). Rad26, a DNA-dependent ATPase, Rpb9, a nonessential subunit of RNAP II, and Sen1, a 5 0 to 3 0 RNA/DNA and DNA helicase, have been shown to facilitate TCR in Saccharomyces cerevisiae. In contrast, a number of factors have also been found to repress TCR in the yeast. These TCR repressors include Rpb4, another nonessential subunit of RNAP II, Spt4/5, a transcription elongation factor complex, and the RNAP II-associated factor 1 complex (PAFc). It appears that the eukaryotic TCR process involves intricate interplays of RNAP II with TCR facilitators and repressors. In this minireview, we summarize recent advances in TCR in S. cerevisiae.

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Inflammatory radiculoneuropathy in an ALS4 patient with a novelSETXmutation: Figure 1

Cited by 9 publications

References 5 publications

Genotype-phenotype correlations of amyotrophic lateral sclerosis

Genotype-phenotype correlations of amyotrophic lateral sclerosis

Juvenile amyotrophic lateral sclerosis type 4: case report and review

Facilitators and Repressors of Transcription‐coupled DNA Repair in Saccharomyces cerevisiae

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