Cognitive functions in ataxia with oculomotor apraxia type 2.

BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by cerebellar atrophy, peripheral neuropathy, oculomotor apraxia, and elevated serum alpha-fetoprotein (AFP) levels. The disease is caused by a recessive mutation in the senataxin gene. Since it is a very rare cerebellar disorder, no detailed examination of cognitive functions in AOA2 has been published to date. The aim of the present study was to investigate the neuropsychological profile of a 54-year-old patient with AOA2. METHODS: A broad range of neuropsychological examination protocol was administered including the following domains: short-term, working- and episodic-memories, executive functions, implicit sequence learning, and the temporal parameters of speech. RESULTS: The performance on the Listening Span, Letter Fluency, Serial Reaction Time Task, and pause ratio in speech was 2 or more standard deviations (SD) lower compared to controls, and 1 SD lower on Backward Digit Span, Semantic Fluency, articulation rate, and speech tempo. CONCLUSION: These findings indicate that the pathogenesis of the cerebrocerebellar circuit in AOA2 is responsible for the weaker coordination of complex cognitive functions such as working memory, executive functions, speech, and sequence learning.

[Effect of two month positive airway pressure therapy on the structure of sleep, cognitive function and anxiety]. / Két hónapos légsínterápia hatása az alvás struktúrájára, a kognitív funkciókra es a szorongásra.

Obstructive sleep apnea is a common disorder, characterized by repeated episodes of upper airway obstruction during sleep, resulting intermittent hypoxia and disruption of the normal sleep pattern, which caused cognitive dysfunction in these patients. Nasal continuous positive airway pressure is the treatment of choice for this disorder. The aim of the study is to evaluate the effect of short-term positive airway pressure on sleep pattern (polisomnographic measures), cognitive function and anxiety. Twenty four newly diagnosed and previously untreated patients with obstructive sleep apnea were evaluated a battery of neuropsychological tests before and after 2 and a half months of the treatment. We focused on working memory, short and long-term episodic memory, executive functions, anxiety and subjective sleepiness. Our results showed that the two and half month of treatment improved the respiration during sleep, sleep pattern and the subjective sleepiness. We found improvement in short- and long-term verbal memory, and complex working memory. Despite of treatment we did not find improvement in visuospatial learning. These results reveal that 2 and a half months of positive airway pressure treatment restored not only the normal respiration during sleep and normal sleep pattern, but also the cognitive functions. Our study suggests that cognitive dysfunction is at least partial reversible in obstructive sleep apnea patients after positive airway pressure treatment.

Language deficits in pre-symptomatic Huntington's disease: evidence from Hungarian.

A limited number of studies have investigated language in Huntington's disease (HD). These have generally reported abnormalities in rule-governed (grammatical) aspects of language, in both syntax and morphology. Several studies of verbal inflectional morphology in English and French have reported evidence of over-active rule processing, such as over-suffixation errors (e.g., walkeded) and over-regularizations (e.g., digged). Here we extend the investigation to noun inflection in Hungarian, a Finno-Ugric agglutinative language with complex morphology, and to genetically proven pre-symptomatic Huntington's disease (pre-HD). Although individuals with pre-HD have no clinical, motor or cognitive symptoms, the underlying pathology may already have begun, and thus sensitive behavioral measures might reveal already-present impairments. Indeed, in a Hungarian morphology production task, pre-HD patients made both over-suffixation and over-regularization errors. The findings suggest the generality of over-active rule processing in both HD and pre-HD, across languages from different families with different morphological systems, and for both verbal and noun inflection. Because the neuropathology in pre-HD appears to be largely restricted to the caudate nucleus and related structures, the findings further implicate these structures in language, and in rule-processing in particular. Finally, the need for effective treatments in HD, which will likely depend in part on the ability to sensitively measure early changes in the disease, suggests the possibility that inflectional morphology, and perhaps other language measures, may provide useful diagnostic, tracking, and therapeutic tools for assessing and treating early degeneration in pre-HD and HD.

Carotid stenosis and the cognitive function.

While stroke is a known cause of a cognitive impairment, the relationship between a carotid artery stenosis and the cognitive function in individuals without a history of stroke is less clear. A number of risk factors for vascular disease are related to a cognitive impairment. Hypertension, diabetes mellitus, cigarette smoking, and dyslipidemia are also associated with an increased risk of carotid artery disease. Some studies have suggested that a stenosis of the internal carotid artery may be an independent risk factor for a cognitive impairment. A high-grade stenosis of the internal carotid artery may be associated with a cognitive impairment even without evidence of infarction on magnetic resonance imaging. On the other hand, it is fairly common that patients display a normal cognition despite severe carotid artery disease, highlighting the important role of an efficient collateral blood supply. The possible pathomechanisms of a cognitive impairment include silent embolization and hypoperfusion. Carotid endarterectomy or stenting may lead to a decline in the cognitive function in consequence of microembolic ischemia or intraprocedural hypoperfusion. Conversely, perfusion restoration could improve a cognitive dysfunction that might have occurred from a state of chronic hypoperfusion. It is unclear whether these complex interactions ultimately result in a net improvement or a deterioration of the cognitive function. The evidence available at present does not seem strong enough to include consideration of a loss of cognition as a factor in determining the balance of the risks and benefits of therapy for a carotid stenosis.

[Cognitive impairment in patients with alcoholism after long-term abstinence]. / Kognitív funkciók vizsgálata alkoholfüggo betegeknél.

Patients with alcoholism display impaired cognitive information processing. In this study, we use clinically useful and effective neurocognitive tests to investigate these impairments. Twenty patients with the DSM-IV diagnosis of alcohol dependency and 20 age-, gender-, education-, and IQ-matched healthy control subjects participated in the study. The patients were abstinent for more than 6 months. For the assessment of neurocognitive impairment, listening span and backward digit span (working memory), Trail Making A, Trail Making B, semantic fluency (executive functions), digit span, world list task (short-term verbal memory) and the Digit Symbol Substitution Task (attention) were used. As a complex background test battery, we also used the Rivermead Behavioral Memory Test. Patients with alcoholism, even after a long period of abstinence, showed significant impairment in some cognitive domains, including executive functions and speed of processing. Inverse correlation was observed between the duration of the abstinent period and the deficit in the Trail Making task and the semantic fluency task. On the other hand, episodic memory and delayed memory functions were intact. These results show that in some cognitive domains (executive functions and semantic fluency), the performance is related to the duration of the abstinent period, which may suggest the recovery of these functions. Some other domains do not show such an improvement, which could be due to a primary deficit or to a slower recovery process.

Obstetric and sociodemographic risk of vulnerability to postnatal depression.

OBJECTIVE: To assess the associated obstetric and sociodemographic risk of vulnerability to postnatal depression in a population-based study. METHODS: All women presenting for postpartum care (n=1656) were surveyed at pregnancy care units of southern-eastern Hungary between January 2004 and May 2006 with an anonymously completed Leverton questionnaire (LQ). The demographic characteristics, obstetric data and related variables were determined as potential correlates of vulnerability to postnatal depression. Significant predictive factors associated with vulnerability were analysed by means of linear correlation and multiple regression analysis. RESULTS: The Leverton score significantly differed between primiparous and multiparous women [primiparous 11.3+/-7.0 (mean+/-standard deviation) and multiparous women 12.1+/-7.1]. The univariate difference was not significant as regards previous infertility [infertility: 11.4+/-6.2 and no infertility: 11.7+/-7.2]. Vulnerability to depression was diagnosed in 892 (53.9%) of the postpartum women. The predictors of vulnerability to postnatal depression include an unwanted pregnancy (AOR: 5.6, 95% CI: 3.97-9.71) and an unfavourable pregnancy case history (AOR: 2.27, 95% CI: 2.912-5.76). The higher number of children represent significantly lower odds for postpartum vulnerability in the case of multiparous women (AOR: 0.11, 95% CI: 0.05-0.16). CONCLUSION: The risk of postnatal depression can be modified by the sociodemographic and obstetric history data. PRACTICE IMPLICATIONS: Our predictive data reflect that the LQ is useful screening method for postnatal vulnerability and determine the advisability of intervention/preventive therapy control the effects of the risk factors concerning vulnerability.