ABSTRACT
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder caused by mutations in the SACS gene (13q12) encoding the protein sacsin. It is characterized by early-onset cerebellar ataxia, lower limb spasticity, sensorimotor axonal polyneuropathy, and atrophy of the superior cerebellar vermis. Cerebellar disorders in general may be accompanied by the cerebellar cognitive affective syndrome (CCAS) which presents with disturbances of executive functioning, spatial cognition, linguistic capacities, and affect. SAMPLING AND METHODS: Two middle-aged brothers with ARSACS, one of whom was referred for behavioral disinhibition, are described. A detailed neuropsychiatric and neuropsychological assessment was performed. RESULTS: Apart from motor symptoms, motivational deficits along with cognitive and behavioral dysfunctions were present; these were much more pronounced in the older sib. CONCLUSIONS: These observations add to the literature which suggests that the cerebellum, apart from its significance for motor behavior, plays a functional role in human cognition and affect. The nonmotor symptoms of ARSACS are discussed in terms of the CCAS.
Subject(s)
Brain/pathology , Cerebellar Diseases/diagnosis , Cognition Disorders/diagnosis , Mood Disorders/diagnosis , Muscle Spasticity/diagnosis , Spinocerebellar Ataxias/congenital , Atrophy , Cerebellar Diseases/genetics , Cerebellar Diseases/pathology , Cognition Disorders/genetics , Cognition Disorders/pathology , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Mood Disorders/genetics , Mood Disorders/pathology , Muscle Spasticity/genetics , Muscle Spasticity/pathology , Neuropsychological Tests , Spinocerebellar Ataxias/diagnosis , Spinocerebellar Ataxias/genetics , Spinocerebellar Ataxias/pathologySubject(s)
Aorta, Thoracic/diagnostic imaging , Echocardiography, Transesophageal , Female , Humans , Middle AgedABSTRACT
The development of tick resistance was studied in three one-year-old female Galway cross ewes which received up to three staggered infestations of 100 adult pairs of Ixodes ricinus. Sheep acquired resistance after the first infestation and the ticks showed suppressed feeding and oviposition success. The histology of tick-bite lesions revealed a cellular infiltrate consisting predominantly of neutrophils and this was followed by the infiltration and degranulation of basophils. Mononuclear cells accompanied basophil infiltration and then dominated the cellular infiltrate. Eosinophils infiltrated tick-bite lesions in considerable numbers especially in the tertiary infestation, in which degranulation of mast cells and basophils was also most rapid.
