• MeSH
• Child MeSH
• Electrophysiology methods   MeSH
• Humans MeSH
• Check Tag
• Child MeSH
• Humans MeSH

Výraz „ataxie“ je homonymum pro atypii průběhu nemoci, symptom popisující poruchu pohybu a označení skupiny dědičných chorob. Historický Hippokratův význam ataxie k označení atypického průběhu onemocnění se již nepoužívá a o skupině spinocerebelárních ataxií se píše v literatuře denně v kontextu nových genetických objevů i zpřesňování jejich fenotypové/genotypové korelace. V souvislosti s rozvojem vyšetřovacích zobrazovacích a elektrofyziologických metod se však dostává do pozadí klinická typizace ataxie jako symptomu, který může být neurologovi dobrým vodítkem v diferenciálně-diagnostické rozvaze o etiologii obtíží pacienta. Následující stať je proto věnována pohledu na ataxii jako symptom, jsou probrána specifika ataxie z hlediska zařazení syndromologického a v závěru jsou stručně nastíněny nejčastější či záludné příčiny, které mohou ataxii způsobovat, event. mitigovat.

“Ataxia” as a term is a homonym for an unusual course of a disease. As a symptom, ataxia means impaired, irregular movement. Ataxia is known as a group of hereditary diseases, too. Historical meaning of ataxia as a sign of unusual course of disease is no longer used, spinocerebellar ataxia as a group of hereditary diseases is lively discussed in a context of news in molecular genetics. Nevertheless, it seems that precise clinical description of ataxia as a symp­tom is no longer considered to be relevant as we have many possibilities in neuroimaging and electrophysiological investigation. However, clinical feature of ataxia can serve as an important clue in differential diagnosis. This text describes ataxia as a symptom. We discussed specific signs of ataxia from syndromological point of view and highlighted the most common causes of ataxia and some of the rare causes and causes imitating ataxia, too. Key words: ataxia – cerebelar ataxia – sensory ataxia – vestibular ataxia – etiology of ataxia The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

• Keywords
• senzitivní ataxie, vestibulární ataxie,
• MeSH
• Ataxia * diagnosis   etiology   MeSH
• Cerebellar Ataxia * diagnosis   etiology   MeSH
• Humans MeSH
• Cerebellum physiopathology   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

Výraz „ataxie“ se používá jak ve významu porušeného, nepravidelného pohybu, tak jako označení skupiny dědičných chorob. Ta se denně rozrůstá o nové genetické objevy a dochází ke zpřesňování jejich feno-/genotypové korelace. V souvislosti s rozvojem vyšetřovacích zobrazovacích a elektrofyziologických metod se však dostává do pozadí klinická typizace ataxie jako symptomu, který může být neurologovi dobrým vodítkem v diferenciálně-diagnostické rozvaze o etiologii obtíží pacienta. Následující text je proto věnován pohledu na ataxii jako na syndrom, jsou probrána specifika ataxie z hlediska jejího zařazení a v závěru jsou stručně nastíněny nejčastější či záludné příčiny, které mohou ataxii způsobovat, event. imitovat.

Term “ataxia” means impaired, irregular movement, but is also known as a group of hereditary diseases. Thanks to progress in molecular genetics, new types of ataxia are found daily, together with specification of phenotype-genotype correlation. With progress in neuroimaging and electrophysiology, ataxia as a symptom might not get the appropriate attention of clinicians. However, clinical features of ataxia can serve as an important clue in differential diagnosis. This text describes ataxia as a syndrome. We discussed specific signs of ataxia from a syndromological point of view and highlighted the most common causes of ataxia and some of the rare causes imitating ataxia as well.

• Keywords
• senzitivní ataxie, vestibulární ataxie,
• MeSH
• Acute Disease MeSH
• Gait Ataxia diagnosis   etiology   physiopathology   MeSH
• Ataxia diagnosis   etiology   physiopathology   MeSH
• Cerebellar Ataxia diagnosis   etiology   physiopathology   MeSH
• Chronic Disease MeSH
• Diagnosis, Differential MeSH
• Humans MeSH
• Check Tag
• Humans MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) je autozomálně recesivní neurodegenerativní onemocnění z okruhu hereditárních ataxií s pozdním začátkem postihující mozeček, senzitivní nervy a vestibulární systém. Jeho genetická příčina byla odhalena v roce 2019 a od roku 2020 je dostupné také diagnostické molekulárně genetické vyšetření. Dle dosavadní literatury se ukazuje, že CANVAS je nejčastější příčinou hereditární ataxie s pozdním nástupem. Ve skupině prvních devíti vyšetřených pacientů s podezřením na toto onemocnění jsme zachytili čtyři případy CANVAS, tři pacienty podrobně popisujeme v této práci.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease from hereditary ataxias with a late onset that affects the cerebellum, sensory nerves, and the vestibular system. Its genetic cause was discovered in 2019 and since 2020, diagnostic molecular genetic testing has also been available. According to the existing literature, it seems that CANVAS is a major cause of late onset hereditary ataxia. Out of the first nine examined patients with the suspected disease, we confirmed four cases of CANVAS; three of the patients are described in detail in this manuscript.

• Keywords
• CANVAS,
• MeSH
• Cerebellar Ataxia * diagnosis   MeSH
• Humans MeSH
• Neuralgia * MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Spinocerebellar Degenerations diagnosis   MeSH
• Vestibular Neuronitis MeSH
• Check Tag
• Humans MeSH
• Male MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Case Reports MeSH

Cílem studie bylo zjistit validitu škály Scale for the assessment and rating of ataxia (SARA), poprvé publikované v roce 2006, u pacientů s autozomálně dominantní spinocerebelární ataxií (AD SCA) a ataxií Friedreichovou (FRDA). Data získaná touto škálou jsme porovnali s výsledky škály International Cooperative Ataxia Rating Scale (ICARS) a korelovali s vybranými posturografickými parametry (PP); a to jednak u všech vyšetřených pacientů a poté zvlášť ve skupině FRDA a AD SCA. Celkem bylo vyšetřeno 30 pacientů (17 AD SCA, 13 FRDA). Proběhlo časově monitorované škálování ICARS a SARA, pak vyšetření posturografické dle standardního protokolu na tenzometrické desce Kistler. Výsledky byly statisticky zpracovány pomocí testů pro neparametrické korelace (Kendall's tau_b). ICARS a SARA vysoce korelovaly ve skupině všech pacientů a pacientů s AD SCA (p < 0,01); u pacientů s FRDA (p < 0,05). ICARS s PP vysoce korelovaly u obou skupin (p < 0,01). Míra asociace mezi SARA s PP u skupiny všech pacientů a selektivně u AD SCA byla signifikantní (p < 0,05); u FRDA signifikantní vztah zjištěn nebyl. Ve shodě s literaturou byla potvrzena validita škály SARA i její menší časové nároky. Prokázaná korelace mezi škálami ICARS a vybranými PP nabízí možnost využití posturografie při objektivním posuzování validity škál u ataktických pacientů. Překvapivě však výsledky škály SARA nekorelovaly s PP u pacientů s FRDA (p > 0,05) a také korelace mezi ICARS a SARA u pacientů s FRDA byla pouze střední (?b = 0,545; p < 0,05). Příčinou sice může být menší počet testovaných FRDA pacientů, ale pravděpodobnější se jeví dominující zadněprovazcová symptomatika, pro kterou je test SARA méně senzitivní.

The goal of this study was to test the validity of the Scale for Assessment and Rating of Ataxia (SARA), published in 2006, using patients with autosomal dominant spino-cereberal ataxia (AD SCA) and Friedreich's ataxia (FRDA). The data obtained was compared with that acquired from the International Cooperative Ataxia Rating Scale (ICARS) and correlated with selected posturographic parameters (PP). A total of 30 patients - 17 AD SCA and 13 FRDA - were examined. Time-monitored ICARS and SARA scales were employed. Posturographic examination on a tensometric platform followed, as per standard protocol. The results were statistically processed with tests for non-parametric correlation (Kendall's tau-b). ICARS and SARA exhibited high correlation in both groups and with AD SCA (p <0.001); mid-level correlation was evident with FRDA (p <0.05); ICARS with PP and standing and walking - part of ICARS -correlated closely with PP in both groups (p <0.01); SARA correlated at mid-level with PP in both groups and with AD SCA (p <0.05). FRDA patients did not correlate. The validity of the SARA scale, including its lower time demands, was demonstrated to be in agreement with the literature. Correlations between the scales and selected PP were established, as well as the possibility of using posturography when reviewing the validity of these scales with ataxia patients. Surprisingly, the results of the SARA scale did not correlate with PP in FRDA (p >0.05) patients and the correlation between ICARS and SARA in FRDA patients was lower (?b = 0.545; p <0.05). The reason for this may lie in the lower number of FRDA patients tested, but SARA may just be less sensitive to the more distinctive symptoms in the dorsal column.

• Keywords
• scale for the assessment and rating of ataxie, International Cooperative Ataxia Rating Scale, autozomálně dominantní spinocerebelární ataxie, posturografie,
• MeSH
• Diagnostic Techniques, Neurological utilization   MeSH
• Financing, Organized MeSH
• Friedreich Ataxia diagnosis   MeSH
• Evaluation Studies as Topic MeSH
• Humans MeSH
• International Classification of Diseases utilization   MeSH
• Posture physiology   MeSH
• Spinocerebellar Ataxias diagnosis   MeSH
• Statistics as Topic MeSH
• Check Tag
• Humans MeSH

Spektrum onemocnění, vznikajících v souvislosti s konzumací glutenu (lepku), proteinu obsaženého v obilovinách, je souhrnně označováno termínem gluten-related disorders (GRD). Nejčastějšími klinickými jednotkami z této skupiny onemocnění jsou celiakie a tzv. neceliakální glutenová senzitivita. Obě onemocnění mají vysokou prevalenci v populaci a velmi variabilní klinickou manifestaci včetně projevů neurologických, kam patří i tzv. glutenová neuropatie, vyskytující se až u 50 % pacientů s celiakií. Nejčastěji jde o axonální, senzitivně-motorickou polyneuropatii s chronickým průběhem, neobvyklé nejsou ani asymetrické formy či polyneuropatie tenkých vláken. Diagnostika je vedle klinického obrazu založena na sérologickém průkazu protilátek proti gliadinu (část molekuly glutenu) a v případě celiakie také proti tkáňové transglutamináze či endomysiu, histologických změnách v biopsii střevní sliznice ev. genetickém průkazu asociace s HLA antigeny II. třídy. Konfirmačním testem je také klinický a laboratorní efekt bezlepkové diety, která je klíčovým terapeutickým opatřením v prevenci rozvoje příznaků poruch glutenové tolerance. U pacientů s glutenovou neuropatií vede dieta spíše k zástavě progrese postižení než k regresi stávajícího neurologického deficitu.

Gluten-related disorders (GRD) is a term used to describe a spectrum of diseases related to the ingestion of the food containing gluten, a cereal protein contained in wheat, rye and barley. Celiac disease and non-celiac gluten sensitivity are the most prominent clinical units of this group with a high prevalence in general population and variable clinical manifestation in both the cases. Among others, they may present with neurological symptoms, mainly polyneuropathy, which is found in about 50 % of celiac patients. So called gluten neuropathy is usually symmetric chronic, sensory-motor and axonal. Asymetric forms as well as small fiber neuropathy can also be found in GRD patients. Besides medical history and clinical picture, diagnosis of GRD (particularly celiac disease) is confirmed by serological methods (evaluating the presence of antibodies against tissue transglutaminase, endomysium and gliadin, a part of gluten molecule), histology (confirming the inflammatory changes in duodenal mucosa biopsy samples) or evidence of the association with HLA II antigens. Confirmation may also be performed by evaluation of the effect of gluten-free diet, which represents a key therapeutical intervention in the prevention of development the clinical symptoms related to GRD. In gluten neuropathy, the diet leads to clinical stabilisation and prevention of the disease progession likely than to a clinical regression of the symptoms and signs.

• Keywords
• gluten-related disorders, neceliakální glutenová senzitivita (NCGS),
• MeSH
• Wheat Hypersensitivity diagnosis   MeSH
• Ataxia etiology   MeSH
• Autoimmune Diseases diagnosis   diet therapy   etiology   MeSH
• Diet, Gluten-Free MeSH
• Celiac Disease * diagnosis   diet therapy   etiology   complications   physiopathology   MeSH
• Endoscopy, Digestive System MeSH
• Gliadin immunology   MeSH
• Glutens * immunology   adverse effects   MeSH
• HLA-DQ Antigens MeSH
• Humans MeSH
• Peripheral Nervous System Diseases * diagnosis   etiology   complications   MeSH
• Intestinal Diseases diagnosis   diet therapy   etiology   MeSH
• Polyneuropathies diagnosis   etiology   complications   MeSH
• Antibodies MeSH
• Serologic Tests MeSH
• Syndrome MeSH
• Check Tag
• Humans MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

Gluten ataxia (GA) has customarily been considered to be the main neurological manifestation of celiac disease (CD). In recent years, the condition of non-celiac gluten sensitivity (NCGS) has been defined, which includes some patients who are not considered "true celiacs." We performed a comparative clinicopathological study of these three entities. We studied 31 GA, 48 CD and 37 NCGS patients, prospectively in the same center for a period of 7 years. The protocol study included two serological determinations for gluten sensitivity [anti-gliadin IgA and IgG (AGA) and anti-tissue transglutaminase IgA (TG) antibodies], HLA-DQ2 typing, and duodenal histological assessment. Demographics and investigative findings were compared. Females were 55 % in GA, 75 % in CD (p < 0.001), and 47 % in NCGS (N.S.). GA patients were older (59 ± 14 years) than CD (43 ± 13 years) and NCGS (41 ± 8 years) groups (p < 0.001). AGA positivity was higher in GA (100 %) than in CD (48 %) groups (p < 0.001), but similar to NCGS patients (89 %; N.S.); TG positivity was lower in GA (3.2 %) than in CD (33.3 %; p < 0.001), but similar to NCGS (2.7 %; N.S.). DQ2 (+) was lower in GA (32.2 %) than in CD (89.6 %; p < 0.001), but similar to NCGS (29.7 %; N.S.). Lymphocytic enteritis (Marsh type 1) was lower in GA (9.6 %) than in CD (66.7 %; p < 0.001), but similar to NCGS (10.8 %; N.S.). The other gluten sensitivity-related characteristics measured were different to CD patients, but very close to NCGS. We conclude that GA patients are better classified within the NCGS group, than within CD.

• MeSH
• Ataxia diet therapy   immunology   physiopathology   MeSH
• Diet, Gluten-Free MeSH
• Celiac Disease diet therapy   genetics   immunology   physiopathology   MeSH
• Adult MeSH
• Glutens immunology   MeSH
• Middle Aged MeSH
• Humans MeSH
• Magnetic Resonance Imaging MeSH
• Brain pathology   MeSH
• Odds Ratio MeSH
• Antibodies immunology   MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Comparative Study MeSH

Knowledge on the clinical, autoimmune, genetic and more recently microbiome and epigenetic interactions in celiac disease (CD) is consistently improving; however, the pathogenic mechanisms of neurological manifestations of gluten sensitivity (NMGS) and their potential relationship with CD remain unclear. Difficulties in assessing both conditions include their highly variable clinical manifestations and the insufficient sensitivity and specificities of currently available diagnostics tools. Patients with neurological manifestations that respond to gluten withdrawal may or may not present enteropathy and others having demonstrable mucosal damage may or may not respond to GFD. Current pathogenic hypotheses that may relate both conditions, the spectrum of clinical manifestations, diagnostic problems, including differences in types and subtypes of antibodies described for diagnosis and the effects of gluten-free diet are reviewed. The evidence show that decisions based on clinical data may be successful for patient management, but do not allow drawing conclusions on the relations between CD and NMGS.

• MeSH
• Ataxia etiology   complications   MeSH
• Celiac Disease * complications   physiopathology   MeSH
• Epilepsy etiology   complications   MeSH
• Glutens adverse effects   MeSH
• Humans MeSH
• Migraine Disorders etiology   complications   MeSH
• Central Nervous System Diseases * etiology   complications   MeSH
• Peripheral Nervous System Diseases etiology   complications   MeSH
• Purkinje Cells pathology   MeSH
• Receptors, N-Methyl-D-Aspartate MeSH
• Transglutaminases adverse effects   MeSH
• Check Tag
• Humans MeSH

• Keywords
• neurogenetika,
• MeSH
• Bulbo-Spinal Atrophy, X-Linked diagnosis   genetics   MeSH
• Muscular Dystrophy, Duchenne diagnosis   genetics   classification   MeSH
• Hereditary Sensory and Motor Neuropathy diagnosis   genetics   MeSH
• Huntington Disease diagnosis   genetics   MeSH
• Leigh Disease diagnosis   genetics   MeSH
• Humans MeSH
• Mitochondrial Diseases diagnosis   genetics   classification   MeSH
• Myotonic Dystrophy diagnosis   genetics   MeSH
• Neurodegenerative Diseases * diagnosis   genetics   MeSH
• Spinocerebellar Ataxias diagnosis   genetics   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Review MeSH

V práci prezentujeme vybrané neurogenetické ochorenia bazálnych ganglií, spinocerebelárne poruchy a ochorenia spojené s postihnutím motorických a periférnych neurónov. Opisujeme Huntingtonovu, Parkinsonovu, Friedreichovu chorobu, spinocerebelárne ataxie, amyotrofickú laterálnu sklerózu, spinálnu a bulbulárnu muskulárnu atrofiu, spinálnu muskulárnu atrofiu, hereditárne spastické paraplégie, Charcot-Marie-Tooth typ 1A chorobu a hereditárnu neuropatiu s náchylnosťou na tlakovú obrnu. Venujeme sa incidencii, molekulárno-genetickým príčinám ochorení, formám dedičnosti, patobiochemickým aspektom a stručne opisujeme klinický obraz. Uvedené chorobné jednotky sa spravidla manifestujú závažnou symptomatikou, ale klinické prejavy nemusia byť vždy typické, čo spôsobuje ťažkosti pri diagnostike ochorení. Pre určenie alebo potvrdenie diagnózy býva rozhodujúce práve molekulárno-genetické vyšetrenie. Získané informácie sú cenné aj pre genetickú konzultáciu a prenatálnu diagnostiku u postihnutých rodín. Cieľom práce je poskytnúť stručný prehľad zameraný hlavne na molekulárno-genetické príčiny uvedených ochorení.

Diseases caused by molecular genetic pathology of structural constituents of nervous system – part 2 In this paper we present selected neurogenetic diseases affecting the basal ganglia, spinocerebellar disorders and diseases associated with disabilities of motor and peripheral neurons. We describe Huntington's, Parkinson's, Friedreich's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, spinal and bulbar muscular atrophy, spinal muscular atrophy, hereditary spastic paraplegias, Charcot-Marie- -Tooth disease type 1A and hereditary neuropathy with liability to pressure palsy. We are dedicated to the incidence, molecular genetic causes of diseases and forms of inheritance. We also briefly describe pathobiochemical aspect of diseases and the clinical symptoms. These disease entities are usually manifested with severe symptoms, but clinical presentations are not always typical that due difficulties in differential diagnosing of diseases. To determine or confirm the diagnosis the molecular genetic testing is very helpful. The acquired information is also valuable for genetic counselling and for prenatal diagnosis in affected families. The main goal of this work is provide a brief overview primarily focused on molecular genetic causes of these diseases. system, molecular genetic diagnosis, incidence, inheritance, clinical manifestation.

• MeSH
• Amyotrophic Lateral Sclerosis genetics   MeSH
• Charcot-Marie-Tooth Disease genetics   MeSH
• Heredodegenerative Disorders, Nervous System * genetics   MeSH
• Dystonia genetics   MeSH
• Friedreich Ataxia genetics   MeSH
• Hereditary Sensory and Motor Neuropathy * diagnosis   genetics   classification   MeSH
• Huntington Disease genetics   MeSH
• Disease Attributes MeSH
• Humans MeSH
• Molecular Biology MeSH
• Mutation MeSH
• Parkinson Disease genetics   MeSH
• Spastic Paraplegia, Hereditary genetics   MeSH
• Muscular Disorders, Atrophic genetics   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Review MeSH