Abstract Background Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive, inherited, lysosomal, and neurodegenerative diseases that causes progressive dementia, seizures, movement disorders, language delay/regression, progressive visual failure, and early death. Neuronal ceroid lipofuscinosis type 2 (CLN2), caused by biallelic pathogenic variants of the TPP1 gene, is the only NCL with an approved targeted therapy. The laboratory diagnosis of CLN2 is established through highly specific tests, leading to diagnostic delays and eventually hampering the provision of specific treatment for […]

Abstract One of the most important figures in the history of neurohistology, Giuseppe Levi (1872–1965) contributed in numerous ways to neuroscience, particularly in the fields of neuronal plasticity and the understanding of sensory ganglia. His daughter Natalia Ginzburg, née Levi (1916–1991), on the other hand, achieved fame as one of the most celebrated Italian writers of the twentieth century. Lessico Famigliare (Family Lexicon), from 1963, is a semibiographical account of her life in which she describes the life and character […]

Dear editor, First and foremost, we express our gratitude towards the authors for their clear and concise description of the article titled “Clinical Assessment of upper limb impairments and functional capacity in Parkinson’s Disease: a systematic review”. While the study addresses an important gap in Parkinson disease (PD) research, particularly in the rehabilitation field, certain limitations and areas of improvement need to be addressed for the research to have a more substantial impact. […]

Abstract New hippocampal neurons are continuously generated in the adult human brain. Several studies have demonstrated that the proliferation of hippocampal cells is strongly influenced by a variety of stimuli, including pesticides exposure. These effects are particularly important because neurogenesis dysregulation could be associated with the decline of neuronal and cognitive functions and the possible development of neuropsychiatric disorders.

A three-month-old male presented with developmental delay, rib fractures, and seizures. He had normal-looking hair. A magnetic resonance imaging (MRI) scan of the brain was normal. Pathogenic ATP7A mutation was identified, which confirmed Menkes Disease. Only at 9 months of age did he develop patches of kinky hair. Parenteral copper histidine supplementation can modify Menkes disease progression if initiated within days after birth., The clinical diagnosis relies on phenotypic presentation, especially sparse and lusterless scalp hair typically apparent by 2 […]