Involuntary moaning in a Hispanic family with eight affected members

Maria Gisatulin, Malco Rossi*, Claudia Perandones, Christine Klein, Katja Lohmann, Marcelo Merello

*Corresponding author for this work


Involuntary moaning has been reported in sporadic cases of neurodegenerative diseases. A five-generation Hispanic family with eight members exhibiting involuntary moaning, most of whom with isolated moaning in the absence of any additional neurological disorder carried a missense variant in the NEFH gene segregating in the family.

Original languageEnglish
JournalParkinsonism and Related Disorders
Publication statusPublished - 2021


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