Clinical and neurophysiological profile of four German families with spinocerebellar ataxia type 14.

Spinocerebellar ataxia type 14 (SCA14) is an autosomal-dominant ataxia caused by point mutations of the Protein Kinase C Gamma gene. In addition to slowly progressive cerebellar ataxia, it is characterised by dystonia and myoclonus. With scant neuropathological data and no detailed neurophysiological examinations little is known on extracerebellar consequences of SCA14 related cerebellar pathology. To this end, we here delineate clinical phenomenology and neurophysiology of four German SCA14 families. Detailed clinical examination including ataxia severity evaluation by means of the Scale for the Assessment and Rating of Ataxia (SARA) was carried out in 9 affected family members (mean age 49.8 years ± 14.4 SD). Motor thresholds (MT), the contralateral silent period (CSP), short interval intracortical inhibition (SICI) and intracortical facilitation (ICF), interhemispheric inhibition (IHI) and short afferent inhibition (SAI) were determined using transcranial magnetic stimulation (TMS). Somatosensory evoked potentials (SEP) of the median nerve, and acoustic and visual evoked potentials (AEP, VEP) were also performed. Most patients reported symptoms since early childhood. There was a positive correlation between age and SARA scores (r = .721, P < 0.05). Patients had cerebellar ataxia, mild dystonia (focal, task-specific or segmental), subtle pyramidal signs and myoclonus. SICI increased with increasing conditioning pulse intensities in healthy controls but not in patients. Other neurophysiological parameters did not differ between groups. SCA14 is a slowly progressive ataxia associated with mild dystonia and myoclonus. Reduced SICI reflects abnormalities of intracortical inhibitory circuits.

Diagnostic barriers for somatic symptom disorders in primary care: study protocol for a mixed methods study in Germany.

INTRODUCTION: Somatoform or somatic symptom disorders ((S)SD) are common and have a negative impact on the patients' health-related quality of life, healthcare use and costs. In primary care, which is central to the management of (S)SD, diagnosis and treatment tend to be delayed. There is a significant lack of evidence regarding the barriers in the diagnostic process of (S)SD in primary care and how interventions should be tailored to address them. The aim of this study is to analyse the diagnostic process in primary care that results in the diagnosis or non-diagnosis of a (S)SD. METHODS AND ANALYSIS: This mixed methods study will investigate the topic with qualitative methods, subsequently proceeding to a quantitative phase where the initial results will be validated and/or generalised. First, focus groups will explore meanings and patterns, inconsistencies and conflicts in general practitioners' (GPs) thoughts and behaviours when diagnosing (S)SD. Second, the results of these focus groups will be used to develop interview guidelines for subsequent face-to-face interviews. Patients and their treating GPs will be interviewed separately on how they experience the history of illness, the diagnostic process and treatment. Third, based on the results of the first two study parts, a questionnaire will be derived and a nationwide survey among German GPs will be conducted, quantifying the barriers and difficulties identified before. ETHICS AND DISSEMINATION: Ethics approval was obtained from the Ethics Committee of the Hamburg Medical Association, Germany (approval number PV4763). The results of this study will be disseminated through conference presentation and publications in peer-reviewed journals. TRIAL REGISTRATION NUMBER: The study is registered in the German Clinical Trial Register (DRKS), DRKS-ID DRKS00009736.