Abstract Amyotrophic lateral sclerosis is increasingly recognized as a multisystem neurodegenerative disorder, and recent evidence suggests that the cerebellum may contribute to disease pathology, although cerebellar metabolic alterations have not previously been demonstrated in vivo. This study investigated cerebellar...
G. Vornetti, F. Punzetti, V. Vacchiano et al.· Brain Communications· 0 citations
Abstract Expansion repeat disorders are caused by abnormal expansions of short tandem repeats (STRs). We evaluated targeted long-read nanopore sequencing for comprehensive characterization of STR expansions in 132 participants, including patients with myotonic dystrophy type 1 (DM1, n = 51) and DM2 (n = 3) already char...
Luca Morandi, F. Casadei, S. De Fanti et al.· NAR Genomics and Bioinformat...· 0 citations
GBA1 variants increase neuropsychiatric vulnerability in Parkinson's disease (PD). In a multicenter cohort of 234 PD patients (78 GBA-PD, 156 nonGBA-PD), we investigated how GBA1 genotype and sex relate to depression. REM sleep behavior disorder was associated with depression in GBA-PD, while sex, cognition, and motor...
P. Mitrotti, M. Avenali, C. Artusi et al.· npj Parkinson's Disease· 0 citations
This case highlights the wide phenotypic spectrum of CX43-related disorders and suggests the importance of testing the GJA1 gene in individuals with atypical presentations, including predominant or isolated neurological phenotypes such as late-onset spastic paraplegia.
Irene Ambrosetti, F. Palombo, Diego D'Angeli et al.· International Journal of Mol...· 0 citations
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