Publications by authors named "Emanuele Cassano"

Background: Hereditary transthyretin (ATTRv) amyloidosis is rare, autosomal dominant disease with a fatal outcome if left untreated. Early stages detection is crucial for intervention. We aimed identifying early indexes of cardiac involvement and their eventual correlation with neurological indexes, in pre-symptomatic subjects with TTR gene mutation.

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Background And Aims: Charcot-Marie-Tooth (CMT) is a heterogeneous group of genetic neuropathies and is typically characterized by distal muscle weakness, sensory loss, pes cavus and areflexia. Herein we describe a case of CMT2CC presenting with proximal muscle weakness and equivocal electrophysiological features, that was misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP).

Case Report: A 30-year-old woman complained of proximal muscle weakness with difficulty climbing stairs.

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Multiple sclerosis (MS) is an autoimmune chronic disease characterized by inflammation and demyelination of the central nervous system (CNS). Despite numerous studies conducted, valid biomarkers enabling a definitive diagnosis of MS are not yet available. The aim of our study was to identify a marker from a blood sample to ease the diagnosis of MS.

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Many women with spinal muscular atrophy (SMA) types II, III, and IV reach fertile age, and some of them may consider pregnancy. However, limited data are available about the potential effects of pregnancy on the course of SMA and the outcomes of pregnancies in these patients. Furthermore, the use of several disease-modifying therapies for the treatment of all types of SMA is expected to increase the number of female SMA patients considering pregnancy in the coming years.

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Introduction: Hereditary transthyretin-mediated amyloidosis (ATTRv, v for variant) is a progressive disease caused by mutations in the TTR gene, leading to sensory-motor, axonal and length-dependent neuropathy. However, some patients may show variable electrophysiological pattern. The aim of this study was to evaluate the electrophysiological features of TTR amyloid neuropathy at the time of the first nerve conduction study (NCS) to assess whether there were distinguishing features useful for early diagnosis.

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Article Synopsis
  • Multiple sclerosis (MS) is a long-term illness that affects the nerves and makes it hard for people to do everyday tasks, and there is currently no cure.
  • To help manage MS, different types of rehabilitation therapies are used, like physical therapy, speech therapy, and cognitive rehabilitation, which help patients improve their abilities.
  • Exercise and new technologies like robot-assisted therapy are showing positive effects for MS patients, and having a good care team can also improve how patients feel and function.
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Botulinum toxin (BT) is an effective treatment for spasticity symptoms in multiple sclerosis (MS). Despite its wide use in clinical practices, only few studies have explored long-term persistence. We aim to evaluate the rate of discontinuation of BT treatment and the correlation with MS, spasticity, and injection variables.

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