BACKGROUND AND OBJECTIVES The ataxias are a challenging group of neurological diseases due the aetiological heterogeneity and the complexity of the genetic subtypes. This guideline focuses on the heredodegenerative ataxias. The aim is to provide a peer-reviewed evidence-based guideline for clinical neurologists and other specialist physicians responsible for the care of patients with ataxia. ...

Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (AOA). The integration of ...

UNLABELLED The effects of age of acquisition and repetition priming on picture naming latencies and errors were studied in 22 children who stutter (CWS) and 22 children who do not stutter (CWNS) between the ages of 3;1 and 5;7. Children participated in a computerized picture naming task where they named pictures of both early and late acquired (AoA) words in two consecutive stages. Findings rev...

Unilateral oculomotor nerve palsy can result from various neurological disorders. We herein report the case of a 68-year-old man with complete unilateral oculomotor nerve palsy following campylobacter infection. Based on the antecedent infection and the patient's decreased tendon reflexes, incomplete Miller Fisher syndrome (MFS) without ataxia was suspected. His serum tested positive for anti-G...

Autotrophic archaeal and bacterial ammonia-oxidisers (AOA and AOB) drive soil nitrification. Ammonia limitation, mixotrophy, and pH have been suggested as factors providing niche specialisation and differentiation between soil AOA and AOB. However, current data from genomes, cultures, field studies, and microcosms suggest that no single factor discriminates between AOA and AOB. In addition, the...

The purpose of this study was to investigate the issue of age-limited learning effects on visual lexical decision in normal and pathological aging, by using words with different frequency trajectories and cumulative frequencies. We selected words that objectively changed in frequency trajectory from an early word count (Thorndike, 1921, 1932; Thorndike & Lorge, 1944) to a later one (Francis & K...

CONTEXT This study explores the long-term impact of the Professional Student Mentored Research Fellowship (PSMRF) program at the University of Kentucky College of Medicine (UKCOM) on medical students' research productivity and career paths. METHODS Demographic characteristics, academic profiles, number of publications and residency placements from 2007 to 2012 were used to assess 119 PSMRF gr...