The Impact of Subthalamic Deep Brain Stimulation on Restless Legs Syndrome in Parkinson's Disease.

INTRODUCTION: The study aimed at evaluating the effect of subthalamic deep brain stimulation (DBS-STN) on restless legs syndrome (RLS) in Parkinson's disease (PD) patients. MATERIALS AND METHODS: We assessed the presence of RLS before and 6 and 12 months after surgery in 36 patients. Differences between patients with RLS, without RLS, and with remission of RLS in terms of sleep measures (interview and validated questionnaires) and nonmotor symptoms (NMS). Polysomnography (PSG) was performed in 24 patients. Simple and multiple regression models were used to identify potential predictors of RLS outcome after DBS-STN. RESULTS: Before DBS-STN 14 of the 36 patients (39%) were diagnosed with RLS. DBS-STN resulted in the resolution of RLS in 43% (n = 6) and the emergence of RLS in 2 (9%) patients. During the study, 20 patients remained without RLS and the patients with unremitting RLS (n = 8) experienced alleviation of symptoms. At baseline patients with RLS had higher Non-Motor Symptoms Scale (NMSS) total and sleep domain, Unified Parkinson's Disease Rating Scale (UPDRS) part IV and lower Parkinson's Disease Sleep Scale (PDSS) scores. There were no differences between the groups without and with RLS in terms of PSG recordings. CONCLUSION: DBS-STN provided relief of symptoms in most of the patients with PD and RLS. We found that RLS was associated with worse subjective sleep quality, more severe NMS, and complications of levodopa therapy. DBS-STN may have direct impact on RLS rather than related indirectly through post-surgery change in medications.

Sexual dysfunction in Huntington's Disease - a systematic review.

INTRODUCTION: Huntington's Disease (HD) is a neurodegenerative disorder of which the main symptoms are motor, cognitive and behavioural problems sometimes including sexual dysfunction. AIM: To review the current knowledge on sexual dysfunction in HD. METHODS: Databases of Pubmed and Scopus were searched. Only original studies performed after 1994 were included (from 1994 a genetic test = proven diagnosis). RESULTS: 162 publications were found, but only nine met our established criteria. The majority of patients with HD suffer from sexual disorders. The most common are: hypoactive sexual disorder (53-83% of patients), hyperactive sexual disorder (6-30%), erectile (48-74%) and ejaculatory dysfunctions (30-65%), lubrication problems (53-83%), and orgasmic dysfunction (35-78%). DISCUSSION: Results may be biased for several reasons e.g.: social taboos regarding sex lives, medications that affect sexual function, impaired self-awareness of patients, small study samples, a lack of standardised questionnaires, and a focus only on the presence of sexual problems without describing them. CONCLUSIONS: Sexual disorders in HD are common. This is a problem that is probably underestimated, both by patients/caregivers and physicians, who should focus more on these symptoms in order to improve patient quality of life.

The impact of subthalamic deep brain stimulation on polysomnographic sleep pattern in patients with Parkinson's disease - Preliminary report.

AIM OF THE STUDY: We present the preliminary results of the study focused on the impact of subthalamic deep brain stimulation (DBS-STN) on sleep and other non-motor symptoms (NMS). MATERIALS AND METHODS: Ten patients with advanced PD, underwent two-night polysomnography (PSG) mean 1.1 week before surgery and 6.2 months post DBS programming. NMS were assessed with a set of scales before surgery and 6 months and 12 months following DBS programming. RESULTS: Contrary to previous studies, we noted deterioration of sleep pattern in the follow-up PSG. We found a decrease in total sleep time, duration of the stage N2, with prolongation of stage N1 and wakefulness after sleep onset. We did not detect any impact of DBS-STN on subjective severity of restless legs syndrome. REM - sleep behavior disorder, however reported was not observed in any patient during PSG evaluations. We also found statistically significant correlations between severity of sleep disturbances and quality of life, as well as, between severity of motor symptoms and worse objective sleep quality. CONCLUSIONS: We found that DBS-STN improved quality of life, subjective quality of sleep and sleepiness, however, contrary to the previous studies the objective parameters of sleep worsened after the surgery.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary ataxia, characterized by the triad of early-onset cerebellar ataxia, peripheral sensorimotor neuropathy and lower limb spasticity. Although ARSACS is increasingly reported worldwide, we present the first Polish family with a comprehensive clinical and neuropsychological assessment, harboring two novel mutations in the SACS gene. Our results demonstrate the variability in cognitive and behavioral profiles in ARSACS, which is in line with other heredodegenerative ataxias. One should be aware of ARSACS in cases of autosomally recessive inherited ataxias without common mutations.

Utility of Frontal Assessment Battery in detection of neuropsychological dysfunction in Richardson variant of progressive supranuclear palsy.

Progressive supranuclear palsy is characterized by motor, cognitive and behavioral features. In Richardson's syndrome of PSP (PSP-RS) executive dysfunction is quite prominent. Frontal Assessment Battery (FAB) is one of the most popular screening tests in the differential diagnosis of bradykinetic rigid syndromes. The study aimed at analyzing FAB subscores in relation to neuropsychological assessment results. Twenty patients with PSP-RS (12 with probable and eight with possible diagnosis) participated in the study. Sixteen PSP-RS patients scored below 15 on FAB. Among four patients having scored above cut-off (12 points) on FAB, two demonstrated both executive and language deficits, while the other two presented with only selective executive deficits on comprehensive neuropsychological evaluation. FAB is a useful screening measure in PSP, but it may not detect subtle executive deficits. Moreover, language performance seems to contribute significantly to FAB scores. Thus, FAB should be treated as "frontal" rather than "executive" screening task, in line with its name.

Writing in Richardson variant of progressive supranuclear palsy in comparison to progressive non-fluent aphasia.

BACKGROUND: The overlap between progressive supranuclear palsy (PSP) and progressive non-fluent aphasia (PNFA) is being increasingly recognized. In this paper descriptive writing in patients with Richardson syndrome of progressive supranuclear palsy (PSP-RS) is compared to writing samples from patients with PNFA. METHODS: Twenty-seven patients participated in the study: 17 with the clinical diagnosis of PSP-RS and 10 with PNFA. Untimed written picture description was administered during neuropsychological assessment and subsequently scored by two raters blinded to the clinical diagnosis. Lexical and syntactic content, as well as writing errors (e.g. omission and perseverative errors) were analyzed. RESULTS: In patients with PSP-RS both letter and diacritic mark omission errors were very frequent. Micrographia was present in 8 cases (47%) in PSP-RS group and in one case (10%) with PNFA. Perseverative errors did not differentiate between the groups. CONCLUSIONS: As omission errors predominate in writing of patients with PSP-RS, writing seems to be compromised mainly because of oculomotor deficits, that may alter visual feedback while writing.

The impact of subthalamic deep brain stimulation on sleep and other non-motor symptoms in Parkinson's disease.

INTRODUCTION: The non-motor symptoms have a major impact on quality of life in patients with Parkinson Disease (PD). We present results of the study on the impact of subthalamic deep brain stimulation (DBS-STN) on sleep and other non-motor symptoms in PD patients. MATERIALS AND METHODS: Thirty-six patients with advanced PD were included into the study. Twenty four were evaluated with two-night polysomnography (PSG) before surgery and at 6 months after DBS programming. The whole group (n = 36) was assessed using motor, non-motor symptoms (sleep disturbances in particular) and quality of life measures (QoL), before surgery, 6 and 12 months after DBS programming. RESULTS: DBS-STN resulted in the significant deterioration of objective sleep parameters, as assessed by PSG, mostly in terms of total sleep time, sleep efficiency, duration of N1 and N2 sleep, wakefulness after sleep onset and sleep latency. At the same time, improvement in the subjective sleep measures, other non-motor symptoms (particularly fatigue, cardiovascular, gastrointestinal, and sexual symptoms) and QoL was identified. The subjective improvement of sleep, other non-motor symptoms and QoL was most prominent in the first 6 months after DBS-STN, diminished slightly (being still better than before surgery) after 12 months, in parallel to mood deterioration. CONCLUSION: DBS-STN resulted in the subjective sleep quality improvement with worsening of objective (PSG) sleep parameters after 6 months. After 12 months all sleep clinical outcome measures were still better than before surgery, albeit worse when compared to the first follow-up visit. Subjective sleep quality correlated positively with mood.

The pattern of verbal, visuospatial and procedural learning in Richardson variant of progressive supranuclear palsy in comparison to Parkinson's disease. / Specyfika uczenia sie materialu slownego, wzrokowo-przestrzennego oraz proceduralnego w wariancie Richardsona postepujacego porazenia ponadjadrowego w porównaniu z choroba Parkinsona.

OBJECTIVES: Progressive supranuclear palsy (PSP) is regarded either within spectrum of atypical parkinsonian syndromes or frontotemporal lobar degeneration. We compared the verbal, visuospatial and procedural learning profiles in patients with PSP and Parkinson's disease (PD). Furthermore, the relationship between executive factors (initiation and inhibition) and learning outcomes was analyzed. METHODS: Thirty-three patients with the clinical diagnosis of PSP-Richardson's syndrome (PSP-RS), 39 patients with PD and 29 age -and education -matched controls were administered Mini-Mental State Examination (MMSE), phonemic and semantic fluency tasks, Auditory Verbal Learning Test (AVLT), Visual Learning and Memory Test for Neuropsychological Assessment by Lamberti and Weidlich (Diagnosticum für Cerebralschädigung, DCS), Tower of Toronto (ToT) and two motor sequencing tasks. Patients with PSP-RS and PD were matched in terms of MMSE scores and mood. RESULTS: Performance on DCS was lower in PSP-RS than in PD. AVLT delayed recall was better in PSP-RS than PD. Motor sequencing task did not differentiate between patients. Scores on AVLT correlated positively with phonemic fluency scores in both PSP-RS and PD. ToT rule violation scores were negatively associated with DCS performance in PSP-RS and PD as well as with AVLT performance in PD. CONCLUSIONS: Global memory performance is relatively similar in PSP-RS and PD. Executive factors (initiation and inhibition) are closely related to memory performance in PSP-RS and PD. Visuospatial learning impairment in PSP-RS is possibly linked to impulsivity and failure to inhibit automatic responses.