Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series

Previous studies have revealed a wide phenotypic heterogeneity in hereditary motor neuropathy type V in which upper and lower motor neurons and peripheral motor axons are variously affected, even within the same family. In this case series, we describe the genetic, clinical and electrophysiological features of patients belonging to a four-generation Italian family. Because of a possible anticipation phenomenon, the disorder became apparent at an earlier age as it passed to the next generation, with a median age of onset of 65?years for the first 2 generations, 32 for the third, and 13.5 for the fourth. The symptoms at onset varied considerably among the sufferers, with a predominant impairment of the hands in seven cases, the impairment of the four limbs in one patient and only of the lower limbs in another. Also muscle atrophy was variable, from very mild to severe (wasting of the distal muscles of the limbs). Moreover, electrophysiological results were heterogeneous, including cases with isolated and with diffuse axonal motor neuropathy, and one case of motor sensory polyneuropathy. A novel polymorphism G→T was also found in the Berardinelli-Seip congenital lipodystrophy 2 gene on intron 4. This broad phenotypic and genotypic spectrum calls the clinician attention to this rare and still insufficiently known disease.     

Identifying emerging trends in recreational drug use; outcomes from the Psychonaut Web Mapping Project

Background

This paper presents the outcomes of the 2-year European Union funded Psychonaut Web Mapping Project which aimed at developing and implementing an integrated web mapping system to promptly identify and learn about novel psychoactive substances (NPS; “legal highs”) through the regular monitoring of the Internet.

Methods

More than 200 discussion forums, social media, online shops, websites and other Internet resources (e.g. YouTube, eBay, Google, Google Insight) have been extensively and regularly monitored in 7 European countries (UK, Finland, Norway, Belgium, Germany, Italy and Spain) for emerging trends of NPS throughout the period of the study.

Results

Key online resources have been identified as “leading edge” which have provided accurate and timely information on novel emerging compounds. In total more than 400 substances/products have been recorded. NPS have been noted online before reaching wider audiences.

Discussion

Although a high number of novel psychoactive substances have been identified in the 2-year duration of the project, not all have become trends that needed public health response. Conversely, new recreational drug phenomena such as “spice drugs,” mephedrone and naphyrone were all identified as emerging trends in forums and websites. In addition, it has been possible for the first time to collate detailed information on these and several more compounds even though no or limited scientific publications were available. It is therefore recommended that these monitoring activities are to be continued, that more countries, researchers and health professionals are involved, and that the findings are widely shared with all the relevant agencies, health professionals and future research projects.Implications, advantages and limitations of using the Internet as primary source for identifying emerging trends are also discussed.     

Foot-ground interaction during upright standing in children with Down syndrome

This study aimed to quantitatively characterize the main foot-ground contact parameters during static upright standing and to assess foot evolution with increasing age in young individuals affected by Down syndrome (DS). To this end, 99 children with DS of mean age 9.7 (1.7) were tested using a pressure sensitive mat, and the raw data were processed to extract information about overall and rearfoot, midfoot and forefoot contact area, Arch Index (AI) and average contact pressure. The values obtained were then compared with those calculated from a sample of age- and gender-matched participants (control group, CG). Children with DS exhibited larger midfoot and reduced forefoot contact areas with respect to CG participants (+53% and -35% respectively, p<0.001), increased AI values (DS 0.31, CG 0.20, p<0.001) and increased average contact pressures in the midfoot and forefoot. The overall foot development for the two groups followed a similar trend, although in individuals with DS a curve that relates increases in midfoot contact area with age is characterized by a steeper gradient, and the forefoot contact area appeared systematically smaller regardless of age. The large prevalence of the flatfoot type in children with DS (which is known to be originated by hypotonia and ligamentous laxity) associated with the presence of higher average contact pressure in midfoot and forefoot justify the need for careful podiatric surveillance throughout childhood to reduce balance and gait impairment which are likely to affect untreated subjects when they reach adulthood.     

Relationship between fatigue and gait abnormality in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility type

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. It has recently been shown that muscle weakness occurs frequently in EDS, and that fatigue is a common and clinically important symptom. The aim of this study was to investigate the relationship between fatigue severity and the gait pattern using 3D Gait Analysis (GA). Eleven individuals with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility type (JHS/EDS-HT) were investigated using muscle strength measured with standardised questionnaire measuring fatigue (Fatigue Severity Scale, FSS) and quantitative 3D GA. Our data showed that FSS value well correlated with the peak of vertical component of ground reaction force (r=-0.66, p<0.05). The negative correlation gives evidence that the higher the fatigue is the more reduced force is during gait. Our results showed that the ground reaction force has been applied as a functional evaluation score for detecting pathology in gait of JHS/EDS-HT participants and the found correlation between vertical force and fatigue demonstrated that muscle fatigue may be associated with a loss of proprioceptive acuity in lower limb muscles.     

Isolated polio-like syndrome after tick-borne encephalitis presenting with acute hyperckemia

Tick borne encephalitis virus infection usually shows a biphasic course. In the first stage of illness symptoms are similar to a flu-like syndrome, then after a defervescence period, fever may represent with neurological manifestations ranging from mild meningitis to severe encephalomyelitis. We report the clinical case of an adult man presented with an acute proximal hyposthenia, severe hyperckemia, clinical and laboratoristic evidence of acute tick borne virus infection. This virus has a favourite tropism for the anterior horn cells of the cervical spine segment. Polio-like syndrome, usually affecting the upper limbs, is the clinical phenotype of an infection of the cervical motoneurons. Usually myelitis is associated to severe encephalitis and a complete diagnosis may be difficult in comatose patients. Rarely, an isolated polio-like syndrome may be the sole neurological complication of tick-borne encephalitis.