Multiple system atrophy with early cognitive deficits: a case report.

We present the case of a patient with multiple system atrophy with predominant cerebellar ataxia (MSA-C) in the early stage of the disease, who was assessed using a comprehensive neuropsychological test battery. Many studies have found cognitive deficits in MSA patients assessed after 2-3 years, but not in the first stages of the disease. The aim of this paper is to stress the importance of a complete neuropsychological assessment, even at the initial stage of the disease, when instrumental examinations are not able to show cortical involvement and daily life activities have not been affected. The neuropsychological tests examined general cognition, verbal and visual memory, visuospatial and constructional ability, language, executive function, depression and functional autonomy. Results showed cognitive deficits in executive functions, above all in the control and inhibition of automatic response, planning and reasoning abilities, memory and visuoconstructional functions. However, these problems did not affect the patient's autonomy in everyday life. MRI scan showed the involvement of the cerebellum and the fibers of the pons and raphe, with normal cerebral ventricles and sulci. The cognitive deficits in our patient could be explained by a disruption in cerebrocerebellum connections between the frontal areas and the cerebellar structures. These results show that a more comprehensive cognitive evaluation is necessary to detect early the onset of neuropsychological deficits, also in order to begin in time adequate rehabilitation programs.

Neuropsychiatric symptoms and the APOE genotype in Alzheimer's disease.

The study aimed to characterize neuropsychiatric symptomatology in Alzheimer's disease (AD) and investigate the role of APOE genotype and other clinical variables in the onset of neuropsychiatric disorders. Moreover, an attempt to study the evolution of behavioral and psychiatric symptoms was made. Fifty-three consecutive outpatients with AD were enrolled. Twenty-four were followed longitudinally for 1 year. MMSE was used to evaluate cognitive functions. The neuropsychiatric inventory (NPI) was administered to assess behavioral and psychiatric symptoms. Genotyping was determined through laboratory testing. At baseline, no specific neuropsychiatric disorder was significantly associated with ApoE genotype, but associated with a peculiar neuropsychiatric profile. Patients with epsilon(4) allele showed a wider range of neuropsychiatric disturbances when compared to non-carriers and higher scores for hallucinations and aberrant motor behaviors. The longitudinal results suggest different trends in both groups: over time, epsilon(4) carriers showed an increase/delayed onset in some symptoms and a parallel decrease in others, while non-carriers presented an undifferentiated worsening of symptomatology. Clear relations with other clinical and demographic variables were also found. APOE epsilon(4) allele is associated to a peculiar neuropsychiatric profile characterizing the onset and evolution of Alzheimer's disease.

Nickel Gluconate-Mercurius Heel-Potentised Swine Organ Preparations: a new therapeutical approach for the primary treatment of pediatric ranula and intraoral mucocele.

OBJECTIVE: Many authors consider surgical therapy of pediatric ranula and intraoral mucocele as the election treatment. Recently, an intracystic sclerosing injection with OK-432 has been proposed as a ranula primary treatment. This preliminary study evaluates the effectiveness of the use of Nickel Gluconate-Mercurius Heel-Potentised Swine Organ Preparations as the primary treatment of pediatric ranula and intraoral mucocele. METHODS: Eighteen children (9 ranulas, 9 labial mucoceles, 2 lingual mucoceles) were treated with oral administration of Nickel Gluconate-Mercurius Heel-Potentised Swine Organ Preparations D10/D30/D200. RESULTS: Eighty-nine percent ranulas (8 out of 9), 67% labial mucoceles (6 out of 9) completely responded to the therapy. One ranula, that interrupted therapy after only 4 weeks, was subjected to marsupialization in another hospital. A double mucocele case partially responded (one of the two was extinguished), another case incompletely responded, decreasing the size beyond 50%, and just one case, changing volume, resisted the therapy. Lingual mucocele healed at once. Blandin-Nuhn polypoid congenital mucocele responded to the treatment with gradual reabsorption, permitting surgical excision of the atrophic polypoid remnant, without removing glands of origin. No solved case showed recurrence (follow up range: 4-32 months). CONCLUSION: Homotoxicological therapy with Nickel Gluconate-Mercurius Heel-Potentised Swine Organ Preparations D10/D30/D200 is an effective primary treatment of pediatric ranula and intraoral mucocele.

A case of atypical progressive supranuclear palsy.

BACKGROUND: Progressive supranuclear palsy (PSP) is a neurodegenerative extrapyramidal syndrome. Studies have demonstrated that PSP can present clinically as an atypical dementing syndrome dominated by a progressive apraxia of speech (AOS) and aphasia. AIM: We aimed to investigate the clinical presentation of PSP, using a comprehensive multidimensional evaluation, and the disease response to various pharmacological treatments. METHODS: A 72-year-old right-handed male, with 17 years education, who first presented with aphasia, AOS, depression, apathy, and postural instability at 69 years; a complete neuropsychological evaluation, tapping the different cognitive domains, was performed. RESULTS: Testing revealed a moderate global cognitive deficit (Mini-Mental State Examination test score =20), low memory test scores (story recall, Rey's 15-word Immediate and Delayed Recall), and poor phonemic and semantic fluency. The patient's language was characterized by AOS, with slow speech rate, prolonged intervals between syllables and words, decreased articulatory accuracy, sound distortions, and anomia. Behavioral changes, such as depression, anxiety, apathy, and irritability, were reported. The neurological examination revealed supranuclear vertical gaze palsy, poor face miming, and a mild balance deficit. Magnetic resonance imaging showed only widespread cortical atrophy. Single photon emission computed tomography demonstrated left > right frontotemporal cortical abnormalities. After 6 months, a further neuropsychological assessment showed a progression in cognitive deficits, with additional attention deficits. The patient reported frequent falls, but the neurological deficits remained unchanged. Neuroimaging tests showed the same brain involvement. CONCLUSION: Our case highlights the heterogeneity of the clinical features in this syndrome, demonstrating that atypical PSP can present as AOS and aphasia, without the classical features or involvement of the subcortical gray and brainstem region, commonly affected in typical PSP.

Quality of life measurement and outcome in aphasia.

BACKGROUND: Quality of life (QL) can be defined as the individual's perception of their own well-being. Aphasia is the most important potential consequence of stroke and has a profound effect on a patient's life, causing emotional distress, depression, and social isolation, due to loss of language functions. AIMS: To draw up a QL questionnaire for aphasics (QLQA) focusing particularly on difficulties in interpersonal relationships and on the loss of independence as a result of language disorders. We reported the results of a psychometric evaluation of this measure. Moreover, we experimentally focused on the differences in QLQA between patients affected only by neurological motor impairment and hemiparetic patients with aphasia (PWA) in order to verify the specific role of aphasia on QL. We also explored if the QLQA is sensitive to the severity of aphasia and to the time elapsing from the stroke. METHODS: A total of 146 consecutive PWA and 37 control subjects were enrolled to evaluate the reliability (internal consistency and test-retest reliability) and validity of the QLQA, using standard psychometric methods. Patients were divided into acute (within 3 months since stroke) and chronic (beyond 3 months) groups, and into mild and severe according to the severity of aphasia. The experimental group of only acute PWA was compared to control subjects, with right hemispherical lesion and without aphasia in QLQA total and partial scores. RESULTS: The QLQA had good internal consistency and test-retest reliability. Acute and chronic PWA and mild and severe ones differed in QLQA total, communication, and autonomy subscales. No differences were found in psychological condition. Between aphasic and control patients, significant differences were found in all QLQA subscales. CONCLUSION: The QLQA is a valid measure of QL in PWA, contributing to a better distinction between severe and mild aphasia, and it is sensitive also to the variations in QL depending on the time interval from stroke.

Influence of nutritional status on cognitive, functional and neuropsychiatric deficits in Alzheimer's disease.

Nutrition is an important issue for elderly people, especially in patients with dementia. It is also related to clinical outcome, such as cognition, autonomy and behavior. The present study investigated the role of nutritional status on cognitive, functional and neuropsychiatric deficits in patients with Alzheimer's disease (AD). Forty-nine patients underwent neuropsychological, nutritional and neuropsychiatric assessments. The sample was divided into at risk of malnutrition (21 patients) and well-nourished (28 patients) according to the Mini Nutritional Assessment (MNA) score. The groups were similar for clinical and demographic variables, except for MNA score and age. The mean body mass index (BMI) was higher than the normal range. Patients at risk of malnutrition showed greater impairment, both in simple and instrumental activities of daily living (ADL and IADL) and a more severe ideomotor praxis deficit than well-nourished patients. Neuropsychiatric symptoms showed significant differences in hallucination, apathy, aberrant motor behavior and night-time subscales of Neuropsychiatric Inventory (NPI). These symptoms were more severe in patients at risk of malnutrition. Logistic regression analysis showed that malnutrition was an important risk factor for the onset of apathy. We hypothesized that changes in dietary habits and intake and the onset of these disorders reflect the involvement of a common neuroanatomical network.