A novel SETX gene mutation associated with Juvenile amyotrophic lateral sclerosis
نویسندگان
چکیده
منابع مشابه
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis
Background: Juvenile amyotrophic lateral sclerosis (jALS) is a rare form of ALS with an onset age of less than 25 years and is frequently thought to be genetic in origin. DDHD1 gene mutations have been reported to be associated with the SPG28 subtype of autosomal recessive HSP but have never been reported in jALS patients. Methods: Gene screens for the causative genes of ALS, HSP and CMT using ...
متن کاملHigh‐throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis
BACKGROUND Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration of the motor neurons. To date, 126 genes have been implicated in ALS. Therefore, the heterogenous genetic background of ALS requires comprehensive genetic investigative approaches. METHODS In this study, DNA from 28 Hungarian ALS patients was subjected to targeted high-throughput se...
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Abstract Lead is a heavy metal that affects many organs such as nervous system, liver, and kidney. The most important affected organ is central nervous system. The present study reported a case similar to Amyotrophic lateral sclerosis (ALS) due to lead exposure in an opium addicted person. The patient complaint was the weakness of upper and lower limbs in addition to the unsteadiness of gait...
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Behçet’s disease is a multisystem vasculitis. Its neurological involvement mostly includes parenchymal and non-parenchymal central nervous system manifestations. Peripheral nervous system presentations are rare. A 32-yr-old male patient who fulfilled the international study group criteria for Behçet’s disease, referred to our center with walking difficulty and repeated falling downs. Neurologi...
متن کاملAutosomal dominant juvenile amyotrophic lateral sclerosis.
Juvenile amyotrophic lateral sclerosis (ALS) is a form of chronic motor neuron disease characterized by combined upper and lower motor neuron symptoms and signs with onset prior to age 25 years. We report the clinical and electrodiagnostic findings in 49 affected family members and neuropathological findings from two autopsies of a Maryland kindred with autosomal dominant juvenile ALS linked to...
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ژورنال
عنوان ژورنال: Brain and Behavior
سال: 2018
ISSN: 2162-3279
DOI: 10.1002/brb3.1066