Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants

Clinical and Genetic Analysis of A Father-Son Duo with Monomelic Amyotrophy: Case Report

“…It is important to mention that mutations in SLIT1 have been reported in patients affected with neuroblastoma, acquired aplastic anaemia, supernormal coronary arteries and attention-deficit hyperactivity disorder,[ 25 , 26 , 27 , 28 ] and mutations in RYR3 have been implicated in nemaline myopathy, Alzheimer's disease, gender dysphoria and autism spectrum disorders. [ 24 , 29 , 30 , 31 ] Another identified deleterious variant worth mentioning is ARPP21, which has been shown to be associated with ALS in Europe and the United Kingdom,[ 32 , 33 , 34 ] but did not appear to be a risk factor in patients from Australia and mainland China[ 35 , 36 ] and hence may be investigated in MMA as well as ALS patients from different ethnic groups. Further studies are required to elucidate the functional impact of SLIT1, RYR3 and ARPP21 in MMA.…”

Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations

“…Among 182 investigated Hungarian ALS patients 8.79% carried the ATXN1 intermediate allele compared to 1.12% of control individuals [ 25 ]. In the case of a female patient, who had a relatively late onset and fast progressing disease, co-harboring ATXN1 and C9orf72 repeat expansion was also described [ 25 ]. It could be proposed that the faster progression was due to the interplay between these two repeat expansions.…”