Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation

Aim of the study. This paper describes six cases of patients with myoclonus-dystonia syndrome who are members of a family in which an SGCE gene mutation has been confirmed.Clinical rationale for the study. Myoclonus-dystonia syndrome is a very rare disease, with an incidence in Europe of about 2 in every million. Due to the fact that only a few case reports of this illness are accessible in the literature, the material we collected seems to be valuable for clinical practice.Materials and methods. A history was taken, and physical and genetic examinations of the patients were performed. Furthermore, the clinical examination of three patients was video-recorded. Results. The clinical picture of the disease varied significantly between the described individuals, from a healthy carrier of the SGCE mutation to patients presenting mild to moderate symptoms. The differences concerned the age at onset of the disease, the initial symptoms, the intensity of involuntary movements, and the predominant symptoms. In addition to the typical movement disorders which are myoclonus and dystonia, in the described family there was also the coexistence of epilepsy, obsessive-compulsive behaviour, dyslexia, dysgraphia, non-harmonious development of cognitive processes, as well as mildphenotypic features of muscular dystrophy. The mutation (NM_001099401.2:c.806-809delACTG) found in the presented family has not been described elsewhere.Conclusions and clinical implications. Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms

The relation between plasma α-synuclein level and clinical symptoms or signs of Parkinson's disease

Introduction Parkinson disease (PD) is the common neurodegenerative disease. α-Synuclein (ASN), main aggregating protein in neural cells of CNS in PD, was found in peripheral fluids. Testing ASN in plasma is potential test for diagnose PD, but previous studies are controversial. The aim of this study was to investigate if plasma ASN level may be a valuable biomarker, is the level of plasma ASN concentration different in various motor subtypes of diseases, is there a relation between the level of plasma ASN and the severity of motor symptoms. Methods Patients with PD hospitalized in Neurology Department, Medical College were performed sequencing the 8th and 9th exon of GBA gene. Next plasma ASN level was tested in 58 patients with sequenced GBA gene and in 38 healthy volunteers (HV), matched by the age (respectively 68.43 vs. 64.57 years of age) and sex (female %, respectively: 43.10 vs.44.74). Patients were assessed with the scales: UPDRS (II, III, IV), Hoehn–Yahr (HY) and qualified to PIGD or TD subtype. For homogeneity of the group patients with GBA mutation were excluded from the analysis. Results The ASN level did not differ between patients and HV (respectively: 4.53 vs. 3.73ng/ml) and between patients with different subtypes. There was inverse correlation between ASN and HY in PIGD subtype. Conclusions Plasma ASN level is not valuable marker of the disease. It does not differ in subtypes of the disease. There is relation between plasma ASN level and the severity of the disease in PIGD subtype

Czynniki determinujące jakość życia chorych na połowiczy kurcz twarzy

Background and purpose Hemifacial spasm (HFS), a movement disorder manifested by unilateral spasms of the muscles innervated by the facial nerve, interferes with social life in about 90% of patients, causing social isolation and depression and having a significant impact on the quality of life. The aim of the study was to assess factors affecting the quality of life in patients with HFS in respect of influence of the severity of depression symptoms and botulinum toxin type A (BTX-A) therapy. Material and methods Eighty-five out of 129 patients included in the HFS database of the Movement Disorders Out-patient Clinic, Department of Neurology, University Hospital, Cracow who fulfilled the inclusion criteria and had no exclusion criteria (suffering from concomitant movement disorders, other severe chronic diseases or cognitive impairment) were studied. Demographic and clinical data (age at onset, disease duration and accompanying symptoms) were collected. Severity of HFS was assessed by the five-point clinical scale and seven-point Clinical Global Impression scale. Quality of life was assessed with the HFS-36 questionnaire and severity of depressive symptoms was evaluated with the Beck Depression Inventory. HFS-36 was performed twice, before BTX-A injection and two weeks later. Results The mean global score of HFS-36 was 47 ± 31 (maximum: 140 pts). Decreased HFS-36 score resulted from divergent deterioration in all subscales included in the questionnaire. Independent risk factors of deterioration in HFS-36 were increased severity of HFS and depressive symptoms as well as accompanying trismus. The HFS-36 score depended on the number and type of accompanying symptoms as well. Botulinum toxin type A therapy led to a significant improvement of HFS-36, particularly high in patients with multiple (> 4) HFS-related symptoms. Conclusions The HFS-36 score depends mostly on severity of HFS, depressive symptoms and occurrence of accompanying trismus. It improves after BTX-A treatment.Wstęp i cel pracy Połowiczy kurcz twarzy (hemifacial spasm – HFS), charakteryzujący się przewlekłym występowaniem jednostronnych skurczów mięśni unerwianych przez nerw twarzowy, zaburza funkcjonowanie społeczne prawie 90% chorych, powodując ich społeczną izolację, a nawet depresję, i w konsekwencji pogarsza jakość życia. Celem badania była ocena czynników determinujących jakość życia chorych z HFS z uwzględnieniem wpływu nasilenia objawów depresyjnych i leczenia toksyną botulinową (BTX-A). Materiał i metody Badaniem objęto 85 ze 129 chorych leczonych w Poradni Kliniki Neurologii Szpitala Uniwersyteckiego w Krakowie, którzy spełniali kryteria włączenia do badania i u których nie stwierdzono cech wyłączających z badania (współistniejące choroby ruchu i inne przewlekłe choroby o dużym nasileniu objawów oraz zaburzenia funkcji poznawczych). U wszystkich chorych rejestrowano dane demograficzne i kliniczne (wiek zachorowania, czas trwania, objawy towarzyszące). Nasilenie objawów HFS oceniano za pomocą 7-stopniowej skali Clinical Global Impression i 5-stopniowej skali klinicznej; badanie jakości życia przeprowadzono z użyciem kwestionariusza HFS-36, a nasilenie objawów depresyjnych oceniano za pomocą inwentarza depresji Becka. Kwestionariusz HFS-36 wypełniano dwukrotnie, bezpośrednio przed podaniem BTX-A oraz 2 tygodnie później. Wyniki Średni globalny wynik oceny jakości życia w kwestionariuszu HFS-36 wyniósł 47 ± 31 pkt (na 140 możliwych). Obniżenie jakości życia dotyczyło w różnym stopniu wszystkich podskal kwestionariusza. Niezależnym czynnikiem ryzyka gorszej jakości życia było większe nasilenie objawów HFS, większe nasilenie objawów depresyjnych oraz współwystępujący szczękościsk. Wynik w HFS-36 zależał także od liczby oraz rodzaju występujących objawów towarzyszących. Leczenie BTX-A poprawiało jakość życia, szczególnie u chorych z dużą liczbą objawów towarzyszących. Wnioski Jakość życia w HFS zależy od nasilenia objawów HFS, nasilenia objawów depresyjnych oraz występowania szczękościsku i poprawia się po leczeniu BTX-A

Czynniki determinujące jakość życia chorych na połowiczy kurcz twarzy

Background and purpose Hemifacial spasm (HFS), a movement disorder manifested by unilateral spasms of the muscles innervated by the facial nerve, interferes with social life in about 90% of patients, causing social isolation and depression and having a significant impact on the quality of life. The aim of the study was to assess factors affecting the quality of life in patients with HFS in respect of influence of the severity of depression symptoms and botulinum toxin type A (BTX-A) therapy. Material and methods Eighty-five out of 129 patients included in the HFS database of the Movement Disorders Out-patient Clinic, Department of Neurology, University Hospital, Cracow who fulfilled the inclusion criteria and had no exclusion criteria (suffering from concomitant movement disorders, other severe chronic diseases or cognitive impairment) were studied. Demographic and clinical data (age at onset, disease duration and accompanying symptoms) were collected. Severity of HFS was assessed by the five-point clinical scale and seven-point Clinical Global Impression scale. Quality of life was assessed with the HFS-36 questionnaire and severity of depressive symptoms was evaluated with the Beck Depression Inventory. HFS-36 was performed twice, before BTX-A injection and two weeks later. Results The mean global score of HFS-36 was 47 ± 31 (maximum: 140 pts). Decreased HFS-36 score resulted from divergent deterioration in all subscales included in the questionnaire. Independent risk factors of deterioration in HFS-36 were increased severity of HFS and depressive symptoms as well as accompanying trismus. The HFS-36 score depended on the number and type of accompanying symptoms as well. Botulinum toxin type A therapy led to a significant improvement of HFS-36, particularly high in patients with multiple (> 4) HFS-related symptoms. Conclusions The HFS-36 score depends mostly on severity of HFS, depressive symptoms and occurrence of accompanying trismus. It improves after BTX-A treatment