Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

The slow α-tropomyosin gene (TPM3) has been associated with three distinct histological entities: nemaline myopathy (NM, NEM1), congenital fibre-type disproportion (CFTD), and cap disease (CD). Here we describe a patient presenting an early-onset congenital myopathy associated with a combination of well separated cap structures and nemaline bodies in his muscle biopsy. Exome sequencing analysis allowed us to identify a de novo missense mutation in the TPM3 gene. Our study confirms the extreme variability of morphological findings in TPM3-related myopathies, and proves that cap and nemaline bodies are two sides of the same ‘coin’.     

ALS Cognitive Behavioral Screen-Phone Version (ALS-CBS™-PhV): norms,psychometrics, and diagnostics in an Italian population sample

Neurological Sciences - Up to 50% of motor neuron disease (MND) patients show neuropsychological deficits which negatively affect prognosis and care. However, disability-related logistical issues...     

Psychometrics and diagnostics of Italian cognitive screening tests: a systematic review

Neurological Sciences - Cognitive screening tests (CSTs) are crucial to neuropsychological diagnostics, and thus need to be featured by robust psychometric and diagnostic properties. However, CSTs...     

Clinical features and cognitive sequelae in COVID-19: a retrospective study on N=152 patients

Neurological Sciences - The novel human coronavirus (SARS-CoV-2) shows neurotropism and systemically affects the central nervous system (CNS). Cognitive deficits have been indeed reported as both...     

Episodic long-term memory in post-infectious SARS-CoV-2 patients

Neurological Sciences - Episodic long-term memory (LTM) difficulties/deficits are frequent in COVID-19-recovered patients and negatively impact on prognosis and outcome. However, little is known...