Prevalence and predictors of post-stroke spasticity and its impact on daily living and quality of life

Background and aims. The present study aimed to assess the frequency of spasticity in a single-centre cohort of stroke patients in a one-year follow-up, its predictors, and its impact on the activities of daily living (ADL) and health-related quality of life (HRQoL).Material and methods. A group of 121 consecutive patients with hemiparesis (aged 73 ± 11 years) was selected for further observation, out of 381 Stroke Department patients during one year. At three follow-up assessments three, six and 12 months after stroke, muscle tone and muscle weakness were rated using Modified Ashworth Scale (MAS) and Medical Research Council (MRC); Activities of Daily Living (ADL) and Health Related Quality of Life (HRQoL) were evaluated using the Barthel Index (BI), Modified Rankin Scale (mRS) and an SF-36 questionnaire.Results. Fifty five of 121 (45%) patients after three months had developed spasticity (MAS ≥ 1), and in 19 of the 121 (15%) this spasticity was severe. After one year, 33/94 (35%) patients showed spasticity, and in 19/94 (20%) it was severe. Baseline muscle weakness (MRC), stroke severity as measured by the National Institutes of Health Stroke Scale (NIHSS), and greater disability (BI), were the most significant predictors of persistent post-stroke spasticity. Patients with spasticity had worse HRQoL in terms of their physical functioning, role limitations, physical pain, and vitality.Conclusion. Spasticity, which affects a significant proportion of stroke survivors, was present in 35% of our patients at 12 months after stroke. It has a major impact on both ADL and HRQoL. Severe disability and muscle weakness are the most important predictors of persistent post-stroke spasticity

Ograniczony wgląd w zaburzenia pamięci u osób z chorobą Huntingtona

Background and purpose Patients suffering from Huntington disease (HD) have been shown to present with poor self-awareness of a variety of symptoms. The study aimed to assess the self-awareness of memory impairment in HD in comparison to advanced Parkinson disease (PD), mild PD and cervical dystonia. Material and methods Self-awareness was tested in 23 patients with HD by comparing patient and caregiver ratings in reference to clinical control groups (25 patients with advanced PD, 21 with mild PD and 20 with cervical dystonia). Self-awareness was tested using the Self Rating Scale of Memory Functions, which was administered to both the patients and the caregivers. Neuropsychological assessment addressed general cognitive status (Mini-Mental State Examination), verbal learning (Auditory Verbal Learning Test, 15-word list) and mood (Montgomery-Asberg Depression Rating Scale). Results Patients with HD significantly underestimated their memory dysfunction. Underestimation of memory deficit correlated with disease duration and disease severity in HD. Conclusions Huntington disease patients underestimate memory dysfunction. These results add to the previous reports on poor insight in HD in other domains and suggest that anosognosia in HD, albeit usually rather mild, may be a generalized phenomenon.Wstęp i cel pracy U pacjentów z chorobą Huntingtona (ChH) stwierdza się zaburzoną samoświadomość wielu objawów. Badanie miało na celu ocenę samoświadomości zaburzeń pamięci u chorych na ChH w porównaniu z chorymi na zaawansowaną chorobę Parkinsona (ChP), ChP z niewielkim nasileniem objawów oraz chorymi na dystonię szyjną. Materiał i metody Samoświadomość zaburzeń pamięci zbadano u 23 chorych na ChH poprzez porównanie ocen pacjentów i opiekunów w odniesieniu do klinicznych grup porównawczych (25 chorych na zaawansowaną ChP, 21 chorych na ChP z niewielkim nasileniem objawów oraz 20 chorych na dystonię szyjną). Samoświadomość zaburzeń pamięci zbadano przy użyciu skali Samooceny funkcjonowania pamięci (Self Rating Scale of Memory Functions), którą wypełniali zarówno pacjenci, jak i opiekunowie. W badaniu neuropsychologicznym oceniano ogólny stan funkcjonowania poznawczego (Mini-Mental State Examination), uczenie się materiału słownego (Auditory Verbal Learning Test, lista 15 słów) oraz nastrój (Montgomery-Asberg Depression Rating Scale). Wyniki Chorzy na ChH nie byli w stanie właściwie ocenić nasilenia zaburzeń pamięci, uważając, że funkcjonuje ona lepiej, niż to było w rzeczywistości. Tendencja ta korelowała z czasem trwania choroby oraz nasileniem jej objawów. Wnioski Chorzy na ChH nie zdają sobie w pełni sprawy z nasilenia zaburzeń pamięci. Uzyskane wyniki wspierają wcześniejsze doniesienia z piśmiennictwa o zaburzonym wglądzie w ChH dotyczącym wielu sfer funkcjonowania i sugerują, że anozognozja w ChH, aczkolwiek zazwyczaj raczej łagodna, może mieć charakter uogólniony

The role of neuroimaging in the diagnosis of the atypical parkinsonian syndromes in clinical practice

Atypical parkinsonian disorders (APD) are a heterogenous group of neurodegenerative diseases such as: progressive supranuclear palsy (PSP), multiple system atrophy (MSA), cortico-basal degeneration (CBD) and dementia with Lewy bodies (DLB). In all of them core symptoms of parkinsonian syndrome are accompanied by many additional clinical features not typical for idiopathic Parkinson's disease (PD) like rapid progression, gaze palsy, apraxia, ataxia, early cognitive decline, dysautonomia and usually poor response to levodopa therapy. In the absence of reliably validated biomarkers the diagnosis is still challenging and mainly based on clinical criteria. However, robust data emerging from routine magnetic resonance imaging (MRI) as well as from many advanced MRI techniques such as: diffusion weighted imaging (DWI) and diffusion tensor imaging (DTI), magnetic resonance spectroscopy (MRS), voxel-based morphometry (VBM), susceptibility-weighted imaging (SWI) may help in differential diagnosis. The main aim of this review is to summarize briefly the most important and acknowledged radiological findings of conventional MRI due to its availability in standard clinical settings. Nevertheless, we present shortly other methods of structural (like TCS – transcranial sonography) and functional imaging (like SPECT – single photon emission computed tomography or PET – positron emission tomography) as well as some selected advanced MRI techniques and their potential future applications in supportive role in distinguishing APD

Radiation therapy in patients with implanted deep brain stimulation

Background. As deep brain stimulation (DBS) and radiation therapy (RT) have become established treatments for movement disorders and malignancies respectively, patients being treated with both simultaneously are becoming more frequent.Objectives. Literature regarding the safety of RT in patients with implanted DBS is scarce, and there are no clear guidelines on how to manage them.Methods. We present a follow-up of two Parkinson’s Disease (PD) patients with DBS undergoing RT in the context of previous literature.Results. No adverse events nor malfunctioning of the DBS system were observed. This was in line with previous reports.Conclusions. Since there are no clear safety guidelines for RT in DBS patients, it is important to document experience in this field. A combined approach involving multidisciplinary discussions between neurosurgeons, radiotherapists, clinical oncologists and neurologists is recommended

Kontrola wzrokowa zwiększa precyzję ułożenia dłoni w chorobie Huntingtona

Background: The study aimed at demonstrating dependence of visual feedback during hand and finger positioning task performance among Huntington’s disease patients in comparison to patients with Parkinson’s disease and cervical dystonia. Material and methods: Eighty-nine patients participated in the study (23 with Huntington’s disease, 25 with Parkinson’s disease with dyskinesias, 21 with Parkinson’s disease without dyskinesias, and 20 with cervical dystonia), scoring ≥20 points on Mini-Mental State Examination in order to assure comprehension of task instructions. Neurological examination comprised of the motor section from the Unified Huntington’s Disease Rating Scale for Huntington’s disease, the Unified Parkinson’s Disease Rating Scale Part II–IV for Parkinson’s disease and the Toronto Western Spasmodic Torticollis Rating Scale for cervical dystonia. In order to compare hand position accuracy under visually controlled and blindfolded conditions, the patient imitated each of the 10 examiner’s hand postures twice, once under the visual control condition and once with no visual feedback provided. Results: Huntington’s disease patients imitated examiner’s hand positions less accurately under blindfolded condition in comparison to Parkinson’s disease without dyskinesias and cervical dystonia participants. Under visually controlled condition there were no significant inter-group differences. Conclusions: Huntington’s disease patients exhibit higher dependence on visual feedback while performing motor tasks than Parkinson’s disease and cervical dystonia patients. Possible improvement of movement precision in Huntington’s disease with the use of visual cues could be potentially useful in the patients’ rehabilitation.Wprowadzenie: Badanie miało na celu ukazanie wpływu wzrokowego sprzężenia zwrotnego na poziom wykonania prób ułożenia dłoni oraz palców wśród pacjentów z chorobą Huntingtona w porównaniu z pacjentami z chorobą Parkinsona i dystonią szyjną. Materiał i metody: W badaniu wzięło udział 89 pacjentów (23 z chorobą Huntingtona, 25 z chorobą Parkinsona i dyskinezami, 21 z chorobą Parkinsona bez dyskinez i 20 z dystonią szyjną), z wynikiem ≥20 punktów w MiniMental State Examination, co zapewniało rozumienie instrukcji testowych. Badanie neurologiczne obejmowało podskale ruchowe z Ujednoliconej Skali Oceny Choroby Huntingtona, Ujednoliconej Skali Oceny Choroby Parkinsona – części II–IV oraz Skalę Oceny Dystonii Szyjnej z Toronto. W celu porównania precyzji ułożenia ręki w warunkach pod kontrolą wzrokową oraz bez niej pacjent odtwarzał dwukrotnie 10 pozycji prezentowanych przez badającego – jeden raz w każdym z powyższych warunków. Wyniki: Pacjenci z chorobą Huntingtona wykazali się mniejszą precyzją w próbach naśladowania ułożenia ręki badającego w warunkach bez kontroli wzrokowej w porównaniu z uczestnikami z chorobą Parkinsona bez dyskinez i dystonią szyjną. W przypadku prób z kontrolą wzrokową nie wystąpiły istotne różnice między grupami. Wnioski: Pacjenci z chorobą Huntingtona wykazują większą zależność od wzrokowego sprzężenia zwrotnego przy wykonywaniu zadań ruchowych niż pacjenci z chorobą Parkinsona i dystonią szyjną. Możliwość uzyskania poprawy precyzji ruchów po dostarczeniu wskazówek wzrokowych u pacjentów z chorobą Huntingtona można wykorzystać w rehabilitacji tej grupy chorych

Cognitive functions in myoclonic epilepsy with ragged red fibres – a case report

Introduction. Myoclonic epilepsy with ragged red fibers (MERRF) is a rare, progressive mitochondrial disease affecting multiple systems, including the central nervous system. Typical MERRF symptoms include: myoclonus, epileptic seizures, ataxia and cognitive decline. In mitochondrial diseases selective cognitive impairment or generalized decline, called mitochondrial dementia, is usually diagnosed

Visual control improves the accuracy of hand positioning in Huntington’s disease

Background: The study aimed at demonstrating dependence of visual feedback during hand and finger positioning task performance among Huntington’s disease patients in comparison to patients with Parkinson’s disease and cervical dystonia. Material and methods: Eighty-nine patients participated in the study (23 with Huntington’s disease, 25 with Parkinson’s disease with dyskinesias, 21 with Parkinson’s disease without dyskinesias, and 20 with cervical dystonia), scoring ≥20 points on Mini-Mental State Examination in order to assure comprehension of task instructions. Neurological examination comprised of the motor section from the Unified Huntington’s Disease Rating Scale for Huntington’s disease, the Unified Parkinson’s Disease Rating Scale Part II–IV for Parkinson’s disease and the Toronto Western Spasmodic Torticollis Rating Scale for cervical dystonia. In order to compare hand position accuracy under visually controlled and blindfolded conditions, the patient imitated each of the 10 examiner’s hand postures twice, once under the visual control condition and once with no visual feedback provided. Results: Huntington’s disease patients imitated examiner’s hand positions less accurately under blindfolded condition in comparison to Parkinson’s disease without dyskinesias and cervical dystonia participants. Under visually controlled condition there were no significant inter-group differences. Conclusions: Huntington’s disease patients exhibit higher dependence on visual feedback while performing motor tasks than Parkinson’s disease and cervical dystonia patients. Possible improvement of movement precision in Huntington’s disease with the use of visual cues could be potentially useful in the patients’ rehabilitation

A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes

Our aim was to analyze the phenotypic-genetic correlations in a patient diagnosed with early onset corticobasal syndrome with progressive non-fluent aphasia (CBS-PNFA), characterized by predominant apraxia of speech, accompanied by prominent right-sided upper-limb limb-kinetic apraxia, alien limb phenomenon, synkinesis, myoclonus, mild cortical sensory loss, and right-sided hemispatial neglect. Whole-exome sequencing (WES) identified rare single heterozygous variants in ATP7B (c.3207C>A), SORL1 (c.352G>A), SETX (c.2385_2387delAAA), and FOXP1 (c.1762G>A) genes. The functional analysis revealed that the deletion in the SETX gene changed the splicing pattern, which was accompanied by lower SETX mRNA levels in the patient’s fibroblasts, suggesting loss-of-function as the underlying mechanism. In addition, the patient’s fibroblasts demonstrated altered mitochondrial architecture with decreased connectivity, compared to the control individuals. This is the first association of the CBS-PNFA phenotype with the most common ATP7B pathogenic variant p.H1069Q, previously linked to Wilson’s disease, and early onset Parkinson’s disease. This study expands the complex clinical spectrum related to variants in well-known disease genes, such as ATP7B, SORL1, SETX, and FOXP1, corroborating the hypothesis of oligogenic inheritance. To date, the FOXP1 gene has been linked exclusively to neurodevelopmental speech disorders, while our study highlights its possible relevance for adult-onset progressive apraxia of speech, which guarantees further study