In addressing our recent report of HTRA2 p.G399S as the gene and mutation responsible for essential tremor and subsequent Parkinson disease in a large kindred (1), Tzoulis et al. (2) screened this mutation in patients with Parkinson disease, essential tremor, tremulous cervical dystonia, and nontremulous cervical dystonia patients, and did not find a significant difference in carrier frequency compared with the general population. Their observation replicates our experience, in that in the kindred of our study, HTRA2 p.G399S was responsible for essential tremor and, among homozygotes, for Parkinson disease, but as we reported, this allele was not responsible for essential tremor in other families from the same population.
Patients with Huntington's disease (HD) have involuntary choreiform movements, dementia, psychiatric disorders and behavioral abnormalities.Suicide is very frequent with this disease and is the third most common cause of death.Depression is one of the common adverse effects of tetrabenazine, a drug used to treat chorea in HD, and this may increase the suicide rate in this disease.We report a patient who attempted suicide by taking tetrabenazine and recovered after treatment.
Dystonia refers to an involuntary, repetitive, sustained, painful and twisting movements of the affected body part. This movement disorder was first described in 1911 by Hermain Oppenheim, and many studies have been conducted to understand the mechanism, the diagnosis and the treatment of dystonia ever since. However, there are still many unexplained aspects of this phenomenon. Dystonia is diagnosed by clinical manifestations, and various classifications are recommended for the diagnosis and the treatment. Anatomic classification, which is based on the muscle groups involved, is the most helpful classification model to plan the course of the treatment. Dystonias can also be classified based on the age of onset and the cause. These dystonic syndromes can be present without an identified etiology or they can be clinical manifestations of a neurodegenerative or neurometabolic disease. In this review we summarized the differential diagnosis, definition, classifications, possible mechanisms and treatment choices of dystonia.
Objective: In this article the aim is to investigate the efficacy and adverse effects of Botulinum toxin.Botox and Dysport were compared when appropriate.Ma te ri al and Met hod: This is a retrospective study.Between July 1996 and July 2006, 470 sessions of botulinum toxin injection were applied to 118 patients with cervical dystonia.The initial time of improvement, duration and degree of improvement, frequency and duration of adverse effects, and when appropriate, differences between Botox and Dysport were analysed.Re sults: An average value of 153.4 units (Botox equivalent dose) was used.The patients felt the first improvement after 8.7 days and they returned to their baseline conditions before injection after 2.9 months.Patients expressed 57.5% improvement on average on a visual analog scale.While no side effects were observed in 72.3% of injections, dysphagia was seen in 8.3%, neck pain in 7.7%, weakness in the neck and neck drop in 5.1%, , a change in the type of dystonia in %3.2 , and dry mouth in 2.2%.Aphonia, prickling in the neck, vertigo, itching, ptosis, fatigue, stuffiness, atrophy in neck muscles, syncope during injection was observed in 1.2% of patients.When commercial preperations were compared, average improvement was 58.7% with Botox and 44.1% with Dysport, duration of improvement was 2.9 months with Botox versus 2.3 months with Dysport, and frequency of adverse effects was 25.3% with Botox compared with %62.5 with Dysport.Dis cus si on: Although results of the previously reported controlled studies are highly variable, our results are within the reported limits.Botox and Dyport were frequently reported to be equivalent when correct dilution ratios were used.In our opinion, the reason Botox is more effective with less frequent adverse effects, in this study, is our having less experience with Dysport and using the incorrect dilution ratio of 1/5 at the time when the study was conducted.(Turkish Journal of Neurology 2012; 18:104-7) Key Words: Cervical dystonia,
Significance Essential tremor is one of the most frequent movement disorders of humans, but its causes remain largely unknown. In a six-generation family with both essential tremor and Parkinson disease, we identified a rare missense mutation of HTRA2 as the causative allele. Family members homozygous for this allele were more severely affected than those heterozygous for this allele. The same mutation had been associated with Parkinson characteristics in mouse mutants and with Parkinson disease in some, but not all, epidemiologic studies. Our results suggest that HTRA2 may be responsible for essential tremor in some families and that homozygosity for damaging alleles of HTRA2 may be responsible for Parkinson disease.
