Chronic ataxias with onset after the age of 50 differ significantly from ataxias with childhood or early adulthood onset. This article focuses on late-onset hereditary ataxias, particularly on new subtypes such as CANVAS (Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome) and SCA27B (Spinocerebellar Ataxia type 27B). It describes their clinical manifestations and diagnostic methods, including genetic testing and differential diagnosis against other sporadic ataxias, such as Multiple system atrophy type C. We present the main principles of diagnosing hereditary ataxias and the diagnostic approach used at the Center of Hereditary Ataxias at the Motol University Hospital, which includes a combination of laboratory, imaging, and genetic tests that allow for the exclusion of acquired causes and a pragmatic diagnosis of hereditary diseases.

Neuropsychiatric symptoms (NPS) are common in hereditary ataxias as a part of the cerebellar cognitive affective syndrome. In Friedreich ataxia (FRDA), one of the most common hereditary ataxias, depressive symptoms were previously reported, but little is known about other NPS. We aimed to study the presence and severity of a broad range of NPS in individuals with FRDA and assess the relationship between the NPS and the disease severity, cognition, and quality of life and to examine the concordance between the NPS reported by the patients and by their informants. Mild Behavioral Impairment Checklist (MBI-C), a questionnaire designed for screening NPS in the early stages of neurodegenerative diseases, was administered to informants of individuals with FRDA and healthy controls and to people with FRDA themselves. Compared to healthy controls, patients with FRDA scored significantly higher in the total MBI-C score, emotion dysregulation domain (corresponding to depression and anxiety), and decreased motivation domain. When assessed by caregiver, the total MBI-C score and several NPS domains correlated with activities of daily living. Only psychotic symptoms were related to ataxia severity and general cognition. When endorsed by patients, only the relation between few MBI-C domains and quality of life was observed. We found slight to moderate agreement between informant-rated and patient-rated scores. NPS, particularly emotion dysregulation and decreased motivation, are common and clinically relevant in FRDA and should receive more attention due to their potential impact on quality of life and the possibility of therapeutic intervention.

• MeSH
• činnosti denního života MeSH
• deprese etiologie   MeSH
• dospělí MeSH
• Friedreichova ataxie * psychologie   komplikace   MeSH
• kognice MeSH
• kvalita života * MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• průzkumy a dotazníky MeSH
• studie případů a kontrol MeSH
• stupeň závažnosti nemoci MeSH
• úzkost MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUNDS: Diagnostics of a posterior circulation ischemia (POCI) in patients with acute vertigo is a challenging task. Recently, the combination of HINTS (Head Impulse, Nystagmus and Test of Skew) exam and ABCD2 has been recommended to identify stroke in these patients. Until now, studies regarding HINTS have mostly been tested on preselected patient groups and their results are only partially applicable to real clinical practice. AIMS: To compare the sensitivity and specificity of HINTS and ABCD2 and their combination in unselected acutely dizzy patients in the emergency department (ED) toward posterior circulation stroke detection. METHODS: A prospective cross-sectional monocentric study in ED patients with acute onset of dizziness lasting less than 72 h. Their clinical characteristics, HINTS, vascular risk factors, ABCD2 scores and neuroimaging data were analyzed. RESULTS: 140 patients were recruited. Acute stroke was identified by MRI in 39 patients. All patients had central pattern nystagmus, skew deviation or further focal neurological finding. The age (≥60) and arterial hypertension clearly distinguished stroke and non-stroke group (p < 0001). The sensitivity of HINTS, ABCD2 and their combination in the unselected group was high (82,1 - 97,4%), but specificity low. After removing patients with inconclusive diagnosis, including transitory ischemic attack, specificity was much higher and comparable to previously published results. CONCLUSIONS: The sensitivity and specificity of HINTS in previously published studies may vary because of their selection criteria. Even though, our study was performed on the unselected patient cohort, combination of HINTS and ABCD2 remained highly sensitive in detecting POCI and outperformed each of these tests alone.

• MeSH
• cévní mozková příhoda * komplikace   MeSH
• lidé MeSH
• patologický nystagmus * MeSH
• prospektivní studie MeSH
• průřezové studie MeSH
• vertigo diagnóza   etiologie   MeSH
• závrať diagnóza   etiologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH