Fortschritte der Neurologie-Psychiatrie
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Fortschr Neurol Psychiatr · Sep 2020
Review[Genetic testing for Parkinson's disease: indication and practical implementation].
More than 20 years have passed since the first description of a monogenic cause of Parkinson's disease. Despite the tremendous advances of genetic testing these techniques are rarely used in Parkinson's disease. ⋯ This is not only to ensure the diagnosis of Parkinson's patients with a young onset and / or a positive family history, but also in the context of personalised medicine with new therapeutic options. In the following we would like to give an overview of the basics of genetic testing, the legal requirements, the procedure for genetic testing and an outlook into the future for hereditary Parkinson's diseases.
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Fortschr Neurol Psychiatr · Sep 2018
Review[Spinal muscular atrophy - clinical spectrum and therapy].
Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease with an incidence of 1:10,000 live births, caused by loss of the survival motor neuron 1 gene (SMN1), and represents the most frequent neurodegenerative disorder in children. With greater understanding of the molecular basis of SMA in the past two decades, a major focus of therapeutic developments has been on increasing the fulllength SMN protein by increasing the inclusion of exon 7 in SMN2 transcripts, enhancing SMN2 gene expression, stabilizing the SMN protein or replacing the SMN1 gene. ⋯ Early diagnosis will be crucial for therapeutic success; presumably, the clinical outcome will be much better if treatment already starts presymptomatically. Therefore, presymptomatic diagnosis of SMA via a nationwide genetic newborn screening will be key for an efficient therapy prior to motor neuron death.
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Fortschr Neurol Psychiatr · Sep 2018
Review[Immune-mediated / inflammatory and hereditary neuropathies - overview and diagnostic algorithm].
This paper is a practical survey of immune-mediated, inflammatory and hereditary neuropathies along with recommendations for diagnostic procedures. The large group of immune-mediated, inflammatory neuropathies includes the Guillain-Barré syndrome and chronic-inflammatory demyelinating polyradiculoneuropathy and their subtypes, vasculitic, paraneoplastic and paraproteinemic neuropathies as well as neuropathies resulting from connective tissue disorders. ⋯ Research into the genetic causes has made significant progress in the last 20 years; up to now more than 80 genes mutated in hereditary neuropathies have been identified. Besides classification into axonal, demyelinating or intermediate neuropathies based on electroneurography, distinguishing between sensorimotor, pure motor and (autonomous) sensory neuropathies as well as consideration of particular clinical features and ethnic origin can be helpful in orientating molecular genetic analysis.
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Fortschr Neurol Psychiatr · Mar 2018
Review Comparative Study[Web-based field studies on diagnostic classification and code assignment of mental disorders: comparison of ICD-11 and ICD-10].
The German Society for Psychiatry, Psychosomatics and Psychotherapy (DGPPN,) conducted a comprehensive field study (principal investigator WG) funded by the German Federal Ministry of Health in cooperation with 4 other German medical societies in the field of mental health (DGPM, DGPPR, DeGFS, DGfS) * to support WHO's development of the ICD-11 (Chapters 6 and 17). The objective of the web-based field study was to compare ICD-10 and ICD-11 (beta draft) for selected mental disorders, regarding consistency, accuracy and assessment of utility. The first study (TP1) focused on the diagnostic classification and the second (TP2) on assignment of diagnostic codes. ⋯ This may be a result of the greater complexity for coding use of the ICD-11 (e. g., due to 'post-coordination'), as well as greater familiarity with the ICD-10 system (which German clinicians currently use) and lack of practice with the new ICD-11 codes and tools. In spite of this, users assessed the ICD-11 system as more useful than the ICD-10, in part also because of ICD-11's more systematic and comprehensive coding tools. In addition, time needed for coding improved with practice, indicating need for intense education and training initiatives when ICD-11 is adopted and implemented into clinical practice.
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Fortschr Neurol Psychiatr · Dec 2017
Review[Stroke Mimics and Stroke Chameleons: Differential Diagnosis of Stroke].
The analysis of misdiagnosis of stroke has become increasingly relevant because of the time pressure in the thrombolytic treatment of ischemic strokes. Within the narrow time window of thrombolysis, a false-positive stroke diagnosis can lead to a faulty and potentially dangerous thrombolysis. The terms "Stroke Mimic" (SM = false-positive stroke diagnosis) and "Stroke Chameleon" (SC = false-negative stroke diagnosis) have been introduced for misdiagnosis in this field. ⋯ The rate of SC during the stages of treatment drops from about 50 % in the preclinical stage to about 2-5 % in stroke units. The rates of SM and SC are inversely linked: a reduction in the SM rate leads to a more critical diagnosis of stroke, thus increasing the number of underdiagnosed stroke cases as SC, and vice versa. While SM rarely lead to the legal consequences of treatment error, SC often give rise to accusations of medical errors.