Sleep quality in diabetic patients depends on numerous influencing factors.

No abstract available.

Phenotype and management of neurologic intronic repeat disorders (NIRDs).

During recent years an increasing number of neurologic disorders due to expanded tri-, tetra-, penta-, or hexa-nucleotide repeat motifs in introns of various genes have been described (neurologic intronic repeat disorders (NIRDs)). The repeat may be pathogenic in the heterozygous or homozygous form. Repeat lengths vary considerably and can be stable or unstable during transmission to the next generation. The most well-known NIRDs are Friedreich ataxia, spinocerebellar ataxia types-10, -31, and -36, CANVAS, C9Orf72 familial amyotrophic lateral sclerosis (fALS), and myotonic dystrophy-2 (MD2). Phenotypically, NIRDs manifest as mono-organ (e.g. spinocerebellar ataxia type 31) or multi-organ disease (e.g. Friedreich ataxia, myotonic dystrophy-2). A number of other more rare NIRDs have been recently detected. This review aims at summarising and discussing previous findings and recent advances concerning the etiology, pathophysiology, clinical presentation, and therapeutic management of the most common NIRDs.

Myositis after SARS-CoV-2 vaccination occurs more frequently than assumed and is probably causally related.

We read with interest the article by Camargo-Coronel et al. reporting on a systematic review of patients with idiopathic, inflammatory myopathy developing after anti-SARS-CoV-2 vaccinations.

SARS-CoV-2 associated posterior reversible encephalopathy syndrome (PRES) - a review of 82 cases.

OBJECTIVES: Severe, acute, respiratory syndromecoronavirus- 2 (SARS-CoV-2) infections can be complicated by central nervous system (CNS) disease. One of the CNS disorders associated with Coronavirus Disease-19 (COVID- 19) is posterior reversible encephalopathy syndrome (PRES). This narrative review summarises and discusses previous and recent findings on SARS-CoV-2 associated PRES. METHODS: A literature search was carried out in PubMed and Google Scholar using suitable search terms and reference lists of articles found were searched for further articles. RESULTS: By the end of February 2023, 82 patients with SARS-CoV-2 associated PRES were recorded. The latency between the onset of COVID-19 and the onset of PRES ranged from 1 day to 70 days. The most common presentations of PRES were mental deterioration (n=47), seizures (n=46) and visual disturbances (n=18). Elevated blood pressure was reported on admission or during hospitalisation in 48 patients. The most common comorbidities were arterial hypertension, diabetes, hyperlipidemia and atherosclerosis. PRES was best diagnosed by multimodal cerebral magnetic resonance imaging (MRI). Complete recovery was reported in 35 patients and partial recovery in 21 patients, while seven patients died. CONCLUSIONS: PRES can be a CNS complication associated with COVID-19. COVID-19 patients with mental dysfunction, seizures or visual disturbances should immediately undergo CNS imaging through multimodal MRI, electroencephalography (EEG) and cerebrospinal fluid (CSF) studies in order not to miss PRES.

Discrepancy between clinical presentation and cerebral imaging requires further diagnostic effort.

No abstract available.

Herpes zoster seven days after SARS-CoV-2 vaccination in a patient with ankylosing spondylitis under adalimumab.

Not available.

Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.

BACKGROUND AND PURPOSE: Guidelines on monogenic cerebral small-vessel disease (cSVD) diagnosis and management are lacking. Endorsed by the Stroke and Neurogenetics Panels of the European Academy of Neurology, a group of experts has provided recommendations on selected monogenic cSVDs, i.e. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), autosomal dominant High Temperature Requirement A Serine Peptidase 1 (HTRA1), cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL), pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL), Fabry disease, mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and type IV collagen (COL4)A1/2. METHODS: We followed the Delphi methodology to provide recommendations on several unanswered questions related to monogenic cSVD, including genetic testing, clinical and neuroradiological diagnosis, and management. RESULTS: We have proposed 'red-flag' features suggestive of a monogenic disease. General principles applying to the management of all cSVDs and specific recommendations for the individual forms of monogenic cSVD were agreed by consensus. CONCLUSIONS: The results provide a framework for clinicians involved in the diagnosis and management of monogenic cSVD. Further multicentre observational and treatment studies are still needed to increase the level of evidence supporting our recommendations.

The heart in m.3243A>G carriers.

OBJECTIVES: Little is known about cardiac involvement in m.3243A>G variant carriers. Thus, this study aimed to assess type and frequency of cardiac disease in symptomatic and asymptomatic m.3243A>G carriers. METHODS: Systematic literature review. RESULTS: The m.3243A>G variant may manifest phenotypically as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), myoclonic epilepsy with ragged red fiber (MERRF), Leigh syndrome, or MELAS/KSS (Kearns-Sayre syndrome) overlap. Only few systematic studies which prospectively investigated m.3243A>G carriers for cardiac involvement were found. Cardiac abnormalities reported in m.3243A>G carriers include myocardial abnormalities, arrhythmias, or conduction defects. Myocardial abnormalities include myocardial thickening, hypertrophic cardiomyopathy, dilated cardiomyopathy, noncompaction, myocardial fibrosis, systolic dysfunction, heart failure, or arterial hypertension. Arrhythmias reported in m.3243A>G carriers include paroxysmal supraventricular or ventricular arrhythmias, including sinus tachycardia, atrial fibrillation and nonsustained ventricular tachycardia, and sudden cardiac death. Conduction defects in this group of patients include Wolff-Parkinson-White syndrome and left/right bundle branch block. Asymptomatic m.3243A>G carriers usually do not develop clinical or subclinical cardiac disease. CONCLUSIONS: Cardiac involvement in m.3243A>G carriers has been only rarely systematically studied, which is perhaps why the incidence of cardiac diseases in MELAS is lower than would be expected. Myocardial abnormalities are much more frequent than arrhythmias or conduction defects. All symptomatic and asymptomatic m.3243A>G carriers should be systematically investigated for cardiac disease.

Periodic weakness of the diaphragm as the sole manifestation of bulbar onset myasthenia.

No abstract provided.

Left ventricular hypertrabeculation/noncompaction, cardiac phenotype, and neuromuscular disorders.

BACKGROUND: The prognosis of patients with left ventricular hypertrabeculation/noncompaction (LVHT) and its association with neuromuscular disorders (NMDs) is a controversial topic. The aim of this study was to assess whether the prognosis of LVHT patients is dependent on cardiac phenotype and the presence of NMDs. METHODS: Consecutive patients who were diagnosed with LVHT between 1995 and 2016 were included in the study. Cardiac phenotype was classified according to the recommendations of the European Society of Cardiology as: "dilated" if the left ventricular end-diastolic diameter (LVEDD) was >57 mm and left ventricular fractional shortening (FS) was ≤25%; "hypertrophic" if LVEDD was ≤57 mm, FS > 25%, and left ventricular posterior wall (LVPWT) and interventricular septal thickness (IVST) were both >13 mm; "intermediate" if LVEDD was >57 mm and FS > 25% or if LVEDD was ≤57 mm and FS ≤ 25%; and "normal" if LVEDD was ≤57 mm, FS > 25%, and IVST and LVPWT ≤ 13 mm. Therapy was carried out by the treating physicians. RESULTS: LVHT was diagnosed in 273 patients (80 females, 53 ± 16 years). The phenotype was assessed as dilated in 46%, hypertrophic in 8%, intermediate in 17%, and normal in 29% of the patients. Of these patients, 72% underwent neurological examinations, and an NMD was found in 76%. Over a period of 7.4 years (±5.7), 84 patients died and six underwent cardiac transplantation. The highest mortality rate was observed in the dilated and the lowest in the hypertrophic cardiac phenotype groups. Among the dilated phenotype, mortality was higher in patients with than without NMDs. CONCLUSION: Patients with LVHT and dilated cardiac phenotype have a worse prognosis than patients with a hypertrophic or intermediate/normal cardiac phenotype, especially if they suffer from NMDs.

Takotsubo Syndrome: Clinical Features, Pathogenesis, Treatment, and Relationship with Cerebrovascular Diseases.

PURPOSE OF REVIEW: This review paper aims to provide a complete and updated overview on the clinical and pathophysiological aspects of Takotsubo syndrome (TTS), including prognosis, therapy, and the association with cerebrovascular conditions. RECENT FINDINGS: TTS is an increasingly recognized non-ischemic cardiomyopathy characterized by sudden, temporary weakening of the myocardium, of which the pathogenesis is unknown. Although pathogenesis of TTS remains unclear, a complex interaction between catecholamine-mediated stimulation, myocardial stunning, and subsequent stress-related myocardial dysfunction seems to be the main pathophysiological mechanism. Stroke is linked to TTS by a dual relationship since it may induce TTS by catecholamine release even if TTS itself also may be complicated by left ventricular thrombi leading to stroke. Given its possible complications, including the association with neurological diseases, both cardiologist and neurologists should be aware about TTS in order to diagnose it promptly and to initiate appropriate therapeutic measures.

Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease.

OBJECTIVES: Most acquired neuropathies are treatable, whereas genetic neuropathies respond to treatment in Fabry's disease (FD), transthyretin-related familial amyloidosis (TTR-FA), and Pompe's disease (PD). This review summarizes and discusses recent findings and future perspectives concerning etiology, pathophysiology, clinical presentation, diagnosis, treatment, and outcome of neuropathy in FD, TTR-FA, and PD. METHODS: Literature review. RESULTS: Neuropathy in FD concerns particularly small, unmyelinated, or myelinated sensory fibers (small fiber neuropathy [SFN]) and autonomic fibers, manifesting as acroparesthesias, Fabry's crises, or autonomous disturbances. FD neuropathy benefits from agalsidase alpha (0.2 mg/kg every second week intravenously) or from beta (1.0 mg/kg every second week intravenously). Neuropathy in TTR-FA is axonal and affects large and small sensory, motor, and autonomous fibers. Neuropathy in TTR-FA profits from liver transplantation and the TTR kinetic stabilizer tafamidis (20 mg/d). Neuropathy in PD particularly occurs in late-onset PD and manifests as mononeuropathy, polyneuropathy, or SFN. PD neuropathy presumably responds to alglucosidase-alpha (20 mg/kg every second week intravenously). CONCLUSIONS: Neuropathy in FD, TTR-FA, and PD is predominantly a SFN and can be the dominant feature in FD and TTR-FA. SFN in FD, TTR-FA, and PD needs to be recognized and benefits from enzyme replacement treatment or TT-kinetic stabilizers.