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GENATLAS PHENOTYPE

last update : 11-07-2023

Symbol	ALS28
Location	8q22.3
Name	amyotrophic lateral sclerosis 28
Corresponding gene	LRP12
Main clinical features	slowly progressing muscle weakness beginning in their 40s; in their 50s, they showed muscle weakness; slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness, but facial involvement is rare electromyography showed active and chronic denervation in the cervical and lumbosacral regions; in their 60s, the individuals started to use wheelchairs;
Genetic determination
Function/system disorder	neuromuscular
Type	disease

Remark(s)

. CGG repeat expansions in LRP12 cause both familial and simplex ALS, as well as PMA, and The repeat length in individuals with LRP12-ALS is shorter than 100; CGG repeat expansions in the 5ʹ-UTR of LRP12 cause ALS via a toxic gain-of-function mechanism (PMID: 37339631))