Neurophysiology Research

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Neurophysiology Research 44 7897 074717

Neuromuscular Scholarly Peer-review Journal

The first episode of rhabdomyolysis usually happens in nearly all cases before the age of 5 and death is observed in 1/3 of patients. Here we present two cases of acute rhabdomyolysis with a milder phenotype caused by LPIN1 mutation presenting in adolescence (11 years old) and adulthood (40 years old) after Parvovirus infection and metabolic stress, respectively. In our opinion, the mutation types, epigenetic factors, the environment exposition to triggers or the existence of proteins with a similar structure of LPIN1, may have a role in modulating the onset of rhabdomyolysis. LPIN1 should be included on a panel of genes analysed in the investigation of adult individuals with rhabdomyolysis. We evaluated the safety and tolerability of higher-dose granulocyte colony–stimulating factor (G-CSF) in patients with amyotrophic lateral sclerosis.

Three patients with advanced amyotrophic lateral sclerosis were treated with G-CSF subcutaneously at 5 μg/kg twice daily for 5 consecutive days monthly for 4–12 months. Adverse effects were mild to moderate with musculoskeletal pain and malaise being most often reported.  Bone marrow progenitor cells were rapidly mobilized for a duration of approximately 9 days with transient and variable effect on cytokines Higher-dose G-CSF was well tolerated in this cohort with no apparent effect on disease progression up to 1 year.

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