Objective: To describe the clinical features, etiology, findings from neuroimaging, and treatment results in a series of 29 patients with Holmes tremor (HT).Methods: A retrospective study was performed based on review of medical records and videos of patients with HT diagnosis.Results: A total of 16 women and 13 men were included. The mean age at the moment of CNS insult was 33.9 6 20.1 years (range 8-76 years). The most common causes were vascular (48.3%), ischemic, or hemorrhagic. Traumatic brain injury only represented 17.24%; other causes represented 34.5%. The median latency from lesion to tremor onset was 2 months (range 7 days-228 months). The most common symptoms/signs associated with HT were hemiparesis (62%), ataxia (51.7%), hypoesthesia (27.58%), dystonia (24.1%), cranial nerve involvement (24.1%), and dysarthria (24.1%). Other symptoms/signs were vertical gaze disorders (6.8%), bradykinesia/rigidity (6.8%), myoclonus (3.4%), and seizures (3.4%). Most of the patients had lesions involving more than one area. MRI showed lesions in thalamus or midbrain or cerebellum in 82.7% of the patients. Levodopa treatment was effective in 13 out of 24 treated patients (54.16%) and in 3 patients unilateral thalamotomy provided excellent results. Conclusions:The most common causes of HT in our series were vascular lesions. The most common lesion topography was mesencephalic, thalamic, or both. Treatment with levodopa and thalamic stereotactic lesional surgery seems to be effective.
DBS is an established therapy for advanced PD [1] and has been reported to be efficacious in a few patients with monogenic parkinsonisms such as LRRK2, Parkin, and PINK1 [2][3][4][5][6]. By contrast, knowledge about the outcome of DBS in patients with SNCA mutations is scarce, since only one case has been reported to date [7].We now report the case of a 26-year-old male with Parkinson's disease due to mosaicism of alpha-synuclein duplication, who has successfully undergone GPi-DBS.The patient, who has no family history of PD, developed PD at the age of 18. He initially presented dystonic posturing and tremor in his left foot. Within a few months, this had progressed to micrographia, bradykinesia and resting tremor in his upper left limb. He subsequently developed mild autonomic failure, and mild cognitive decline, as well as behavior disorders (rage episodes, panic attacks, and hallucinations). He initially showed good response to dopamine agonists, but after a short period levodopa was needed to obtain satisfactory motor control. He also developed impulse control disorders secondary to treatment with dopamine agonists, resulting in punding behaviors (e.g., disassembling guitars, computers and his car).FISH was conducted using rhodamine-labeled SNCA probes at 4q22.1 (BAC RP11-614o7, 151 kb) and 4q21.3 [BAC-RP11-711j3, 192 kb (control)]. Results indicated few or no rearrangements (i.e., B4 FISH probe signals in [20 % of interphase cells scored) [6] in peripheral leucocytes from the patient, but 43 % of oral mucosa cells showed duplication of SNCA gene. No exon dosage rearrangements were detected in SNCA or other relevant PD genes using MLPA technique. Mutations in PINK1, PARK2, and DJ were not found and were excluded as causes for the patient's symptoms. Further description of the ancestral origin, genetic tests and immunohistochemical findings of this patient can be found in Perandones et al. [8].As he rapidly showed disabling motor fluctuations and severe peak-dose dyskinesias refractory to pharmacological strategies, the patient was proposed for DBS. The target chosen was the globus pallidus internus (GPi) based on the dyskinesias that affected his quality of life and the fact that he already presented mild cognitive impairment as demonstrated in the preoperative neuropsychological examination. A quadripolar brain electrode (model 3387, Medtronic) was implanted stereotactically with microregistration technique in each GPi and fixed with the Stimloc system. Magnetic resonance imaging was performed in stereotactic conditions; the images were processed with WinNeus Ò program to identify coordinates for both GPi. The electrodes were connected to a pulse generator (Activa RC; Medtronic).
Impulse control disorders (ICD) in Parkinson's disease (PD) have attracted increasing interest. They are characterized by the inability to control the impulse to perform an act that can be detrimental to them or to others. Although dopamine agonists (DA), as a group, have been associated with impulse control disorders (ICD), piribedil has rarely been reported to cause them. Method Case reports of six parkinsonian patients on piribedil presenting pathological gambling (PG). Results All of the patients presented ICD associated with piribedil use. Two of them received this medication as first treatment and four of them who had developed ICDs secondary to other DA that reappeared with piribedil. Conclusion Despite piribedil is commercially available in only a few countries, it should be considered in the differential diagnosis of PG in patients with PD.
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