A Greek National Cross-Sectional Study on Myotonic Dystrophies.

Myotonic Dystrophies (DM, Dystrophia Myotonia) are autosomal dominant inherited myopathies with a high prevalence across different ethnic regions. Despite some differences, mainly due to the pattern of muscle involvement and the age of onset, both forms, DM1 and DM2, share many clinical and genetic similarities. In this study, we retrospectively analyzed the medical record files of 561 Greek patients, 434 with DM1 and 127 with DM2 diagnosed in two large academic centers between 1994-2020.

Age-related Differences in Mu Rhythm During Emotional Destination Memory Task.

Background: Destination memory defined as the ability to remember to whom we addressed a piece of information is found to be impaired in normal aging. Theories of affect development and research findings have shown that emotional charging improves performance on memory tasks, and also that Mu rhythm is desynchronized as an index of mirror neuron activation during such tasks.

Objective: In this paper, we sought to investigate the differences in Mu rhythm during an emotional destination memory task, between younger and older adults.

Disentangling balance impairments in spinal and bulbar muscular atrophy.

Spinal and bulbar muscular atrophy (Kennedy's disease) has been associated with balance dysfunction and falls. However, postural control has not been studied quantitatively. Here, we quantified upright stance and aimed to disentangle the role of vestibular, proprioceptive and oculomotor deficits.

Prognostic significance of CEACAM5mRNA-positive circulating tumor cells in patients with metastatic colorectal cancer.

Purpose: Τo evaluate the clinical relevance of CEACAM5mRNA-positive circulating tumor cells (CTCs) in patients with metastatic colorectal cancer (mCRC).

Methods: Peripheral blood was obtained from 436 patients with mCRC before the initiation of systemic therapy. A second sample was obtained on treatment assessment from 296 (67.

From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17.

Introduction. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD) phenocopies.

C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population.

An expanded hexanucleotide repeat in C9ORF72 has been identified as the most common genetic cause of amyotrophic lateral sclerosis and/or frontotemporal dementia in many populations, including the Greek. Recently, C9ORF72 expansions were reported as the most common genetic cause of Huntington disease (HD) phenocopies in a UK population. In the present study, we screened a selected cohort of 40 Greek patients with HD phenocopies for C9ORF72 hexanucleotide repeat expansions using repeat-primed polymerase chain reaction.

Late-onset Huntington's disease: diagnostic and prognostic considerations.

Objective: To address diagnostic and prognostic issues in patients with late-onset Huntington's disease (HD).

Methods: We analyzed a cohort of 41 late-onset (≥60 years) HD patients and compared them to 39 late-onset patients referred for HD testing that were negative for the HD-expansion and to 290 usual-onset (20-59 years) HD patients. Disease severity was assessed by the Total Functional Capacity Scale.

Friedreich's ataxia and other hereditary ataxias in Greece: an 18-year perspective.

Limited data exist on the spectrum of heredoataxias in Greece, including the prevalence and phenotype of Friedreich's ataxia (FRDA) and the prevalence and subtypes of dominant spinocerebellar ataxias (SCAs). We analyzed clinically and investigated genetically for FRDA and triplet-repeat expansion SCAs a consecutive series of 186 patients with suspected heredoataxia referred to Athens over 18 years. For prevalence estimates we included patients with molecular diagnosis from Cyprus that were absent from the Athens cohort.

The challenge of juvenile Huntington disease: to test or not to test.

Objective: In a cohort of patients with suspected juvenile-onset Huntington disease (HD), we compared HD expansion-positive and -negative cases in order to identify parameters that may allow differentiating between them and may act as a guide to clinicians contemplating genetic testing.

Methods: We analyzed the clinical and genetic characteristics of 76 juvenile-onset patients referred consecutively for HD genetic testing over a 16-year period.

Results: In total, 24 patients were positive for the HD expansion (7.

Inner ear dysfunction in myotonic dystrophy type 1.

Objectives: Myotonic dystrophy type 1 is associated with various oculomotor, vestibular, and auditory abnormalities. However, auditory system investigation has been mainly performed with the subjective method of pure-tone audiometry. In this study, a detailed vestibular and audiological evaluation was undertaken, including the objective and more sensitive method of transiently evoked otoacoustic emissions (TEOAEs).

Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia.

The relative frequency of different autosomal dominant cerebellar ataxias, commonly referred to as spinocerebellar ataxias (SCAs), varies considerably among populations of different ethnic origin. No data exist at present on the frequency of different SCAs in the Greek population. In the present study we investigated the presence of triplet repeat expansion SCAs (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17 and DRPLA) in a cohort of 83 Greek patients with slowly progressive cerebellar ataxia.

Huntington's disease in Greece: the experience of 14 years.

A large scale genetic and epidemiological study of Huntington's disease (HD) was carried out in Greece from January 1995 to December 2008. Diagnostic testing was carried out in 461 symptomatic individuals, while 256 were tested for presymptomatic purposes. The diagnosis of HD with a CAG expansion ≥ 36 was confirmed in 278 symptomatic individuals.

Prevalence of interatrial block in patients with Friedreich's ataxia.

Unlabelled: Interatrial block is a predictor of atrial arrhythmias. Aim of the present study was to estimate the prevalence of interatrial block (IAB) in Friedreich's Ataxia (FA) compared to controls and correlate it with echocardiographic and genetic features.

Methods: IAB, defined as an electrocardiographic (ECG) derived P-wave duration >120 ms, echocardiographic variables and genetic markers were evaluated in 23 FA patients with no manifestation of cardiac involvement and were compared to 23 sex- and age-matched controls.

Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.

Phenotype of patients with the aprataxin gene mutation varies and according to previous studies, screening of aprataxin gene could be useful, once frataxin gene mutation is excluded in patients with normal GAA expansion in frataxin gene. In the present study, we sought to determine possible causative mutations in aprataxin gene (all exons and flanking intronic sequences) in 14 Greek patients with sporadic cerebellar ataxia all but one without GAA expansion in frataxin gene (1 patient was heterozygous). No detectable point mutation or deletion was found in the aprataxin gene of all the patients.

Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus.

Unlabelled: OBJECTIVES. To define the incidence and prevalence of familial amyloidotic polyneuropathy (FAP) TTRVal30Met on the island of Cyprus. To study the clinical phenotype and genetic features of FAP TTRVal30Met in the Cypriot population.

Effect of CAG repeat length on psychiatric disorders in Huntington's disease.

There is strong evidence that the length of CAG repeats, in patients with Huntington's disease (HD), govern the age of onset and the rate of clinical progression of neurological symptoms. However, psychiatric manifestations of the disease have not been examined as comprehensively. Seventy two Greek patients with Huntington's disease had DNA testing and were clinically assessed by means of a semi-structured interview (SCID) and four self-rated questionnaires.

Higher levels of extroverted hostility detected in gene carriers at risk for Huntington's disease.

Background: Numerous retrospective studies have reported the presence of psychiatric disorders at the prodromal or early stages of Huntington's disease (HD). However, most of the studies comparing gene carriers with non-carriers before the clinical manifestation of the illness have failed to reveal differences in the psychiatric manifestation. The objective of the present study was to detect behavioral and psychological features that differentiate gene carriers from non-carriers.

Presymptomatic neuromuscular disorders disclosed following statin treatment.

It is well recognized that statins affect muscular tissue adversely and that their use is associated with clinically important myositis, rhabdomyolysis, mild elevation of serum creatine kinase (CK) levels, myalgias, muscle weakness, muscle cramps, and persistent myalgias or serum CK level elevations after statin treatment is discontinued. The association between statins and the disclosure of presymptomatic metabolic myopathy is another underrated phenomenon related to statin therapy that was recently recognized in rare cases. The purpose of this report is to provide additional support for this association and to report other neuromuscular disorders that have also been seen following statin intake.

Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis.

The mechanisms underlying motor neuron degeneration in amyotrophic lateral sclerosis are not fully understood. Recent studies suggest that apoptosis is involved in the abnormal neural death that occurs in this devastating disease. Presenilin-1, a transmembrane protein, seems to be implicated in apoptosis.

Apolipoprotein E epsilon4 allele as a genetic risk factor for left ventricular failure in homozygous beta-thalassemia.

In homozygous beta-thalassemia, the organ damage is mainly attributed to excessive iron deposition through the formation of oxygen free radicals. Despite appropriate transfusion and chelation therapy and low ferritin levels, patients still develop organ failure, heart failure being the main cause of death. This study was designed to determine whether the decreased antioxidant activity of the apolipoprotein E (APOE) 4 allele could represent a genetic risk factor for the development of left ventricular failure (LVF) in beta-thalassemia homozygotes.