Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Oct 2020
Anti-CASPR2 clinical phenotypes correlate with HLA and immunological features.
Antibodies against contactin-associated protein-like 2 (CASPR2-Abs) have been described in acquired neuromyotonia, limbic encephalitis (LE) and Morvan syndrome (MoS). However, it is unknown whether these constitute one sole spectrum of diseases with the same immunopathogenesis or three distinct entities with different mechanisms. ⋯ Symptoms' distribution supports specific clinical phenotypes without overlap between LE and MoS. The distinct immunogenetic characteristics shared by all patients with LE and the particular oncological and autoimmune associations of MoS suggest two very different aetiopathogenesis.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2020
ReviewDisease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA).
Spinal and bulbar muscular atrophy (SBMA) is a hereditary neuromuscular disorder caused by CAG trinucleotide expansion in the gene encoding the androgen receptor (AR). In the central nervous system, lower motor neurons are selectively affected, whereas pathology of patients and animal models also indicates involvement of skeletal muscle including loss of fast-twitch type 2 fibres and increased slow-twitch type 1 fibres, together with a glycolytic-to-oxidative metabolic switch. ⋯ Androgen-dependent nuclear accumulation of the polyglutamine-expanded AR is an essential step in the pathogenesis, providing therapeutic opportunities via hormonal manipulation and gene silencing with antisense oligonucleotides. Animal studies also suggest that hyperactivation of Src, alteration of autophagy and a mitochondrial deficit underlie the neuromuscular degeneration in SBMA and provide alternative therapeutic targets.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2020
Multicenter StudyChronic inflammatory demyelinating polyneuropathy associated with diabetes: a European multicentre comparative reappraisal.
The association between chronic inflammatory demyelinating polyneuropathy (CIDP) and diabetes is uncertain despite important diagnostic and management implications. ⋯ Our results, both for all CIDP and typical CIDP presentations, support a twofold increased relative risk of diabetes compared with the general population. CIDP with diabetes appears to present older and more frequently in the typical form, as compared with CIDP without diabetes. CIDP with diabetes appears similar to CIDP without diabetes in disability levels at diagnosis and probability, as well as amplitude of treatment response.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2020
Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy.
To determine the prevalence of different comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and their impact on outcome, treatment choice and response. ⋯ Comorbidities are frequent in patients with CIDP and in almost 50% of them have an impact on treatment choice. Diabetes, MGUS and other immune diseases are more frequent in patients with CIDP than in the general population. Only diabetes seems, however, to have an impact on disease severity and treatment response possibly reflecting in some patients a coexisting diabetic neuropathy.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2020
Concussion symptomology and recovery in children and adolescents with pre-existing anxiety.
To examine pre-existing anxiety disorders as a risk factor for increased concussion symptomology and prolonged recovery in children and adolescents. ⋯ Pre-existing anxiety disorders were associated with more severe symptomology and prolonged recovery after concussion in children and adolescents. These results can be referenced by providers to manage patients' recovery expectations.