Objective: To assess cognitive function in variant Creutzfe- ldt-Jakob disease (vCJD). We describe the neuropsychological profiles of 10 c ases and compare these data with cross sectional data obtained from patients w...Objective: To assess cognitive function in variant Creutzfe- ldt-Jakob disease (vCJD). We describe the neuropsychological profiles of 10 c ases and compare these data with cross sectional data obtained from patients wit h histologically confirmed sporadic CJD and cases with inherited prion disease w ith confirmed mutations in the prion protein gene. Methods: Patients referred to the Specialist Cognitive Dis orders Clinic at the National Hospital for Neurology and Neurosurgery and the National Prion Clinic at St Mary’s Hospital, London for further investigation o f suspected CJD were recruited into the study. The neuropsychological test batte ry evaluated general intelligence, visual and verbal memory, nominal skills, lit eracy skills, visual perception and visuospatial functions, and visuospatial and executive function. Results: The results indicate that moderate to severe cogni tive decline is a characteristic feature of vCJD. Specifically,verbal and visual memory impairments and executive dysfunction were pervasive in all disease grou ps. Nominal skills were impaired in variant and sporadic CJD, significantly so w hen compared with the inherited prion disease group. Perceptual impairment was l ess frequent in the vCJD group than in the sporadic and inherited groups. Conclu sion: This study confirms the occurrence of generalised cognitive decline in pat ients with vCJD. Although decline in cognitive function ultimately affects all d omains, there is a suggestion that some components of visual perception may be s pared in vCJD. The results also suggest that nominal function may be preserved i n some cases with inherited prion disease.展开更多
Superficial siderosis of the CNS is a rare condition, caused by deposition of haemosiderin in the superficial layers of the CNS due to repeated chronic subara chnoid or intraventricular haemorrhage. Typically, the hin...Superficial siderosis of the CNS is a rare condition, caused by deposition of haemosiderin in the superficial layers of the CNS due to repeated chronic subara chnoid or intraventricular haemorrhage. Typically, the hindbrain structures, esp ecially the cerebellum, are most affected. There is a surprising lack of studies investigating in detail the behavioural functioning of patients with such a con dition. In this study, we document for the first time the cognitive, social and emotional processing of six patients with a confirmed clinical diagnosis of supe rficial siderosis. They were aged between 40 and 62 years, with a mean age of 50 .2 years; four were male. We administered a comprehensive battery of general cog nitive ability and social cognitive tasks. A review of MRI was also undertaken. The findings indicate selective cognitive impairments affecting speech productio n, visual recall memory and executive functions. In addition, a selective patter n of social dysfunction, affecting the ability to represent other people’s ment al states, was found. These behavioural dysfunctions are reported in the context of MRI-documented lesions maximally involving the cerebellum, in particular th e superior vermis, as well as the medial and inferior frontal cortex. These resu lts suggest that superficial siderosis is associated with a distinct pattern of cognitive and social impairments. They are consistent with the recently proposed role of the cerebellum as a modulator of cognitive, social and emotional functi ons.展开更多
Background: Knowledge of the evolution of cognitive deficits in Alzheimer dise ase is important for our understanding of disease progression. Previous reports, however, have either lacked detail or have not covered th...Background: Knowledge of the evolution of cognitive deficits in Alzheimer dise ase is important for our understanding of disease progression. Previous reports, however, have either lacked detail or have not covered the presymptomatic stage s. Objective: To delineate the onset and progression of clinical and neuropsycho logical abnormalities in familial Alzheimer disease. Methods: Nineteen subjects with familial Alzheimer disease underwent serial clinical and neuropsychological assessments. Eight of these had undergone presymptomatic assessments. The follo w up period was 1 to 10 years (mean, 5 years). The relative timing of the occur rence of 3 markers of disease onset and progression (onset of symptoms, Mini Me ntal State Examination score ≤24, and impaired score on a range of neuropsychol ogical tests) were compared using the binomial exact test. Results: Neurological abnormalities were not prominent, although myoclonus appeared early in some. Mi ni Mental State Examination score was not sensitive to early disease. Memory an d general intelligence deficits appeared at an earlier stage, in some patients w hen pre symptomatic. Perceptual, naming, and especially spelling skills were pr eserved to a late stage. Conclusion: Familial Alzheimer disease may have a long prodromal phase of several years with subtle deficits initially of general intel ligence and memory, while spelling, naming, and perception are relatively preser ved until a late stage.展开更多
文摘Objective: To assess cognitive function in variant Creutzfe- ldt-Jakob disease (vCJD). We describe the neuropsychological profiles of 10 c ases and compare these data with cross sectional data obtained from patients wit h histologically confirmed sporadic CJD and cases with inherited prion disease w ith confirmed mutations in the prion protein gene. Methods: Patients referred to the Specialist Cognitive Dis orders Clinic at the National Hospital for Neurology and Neurosurgery and the National Prion Clinic at St Mary’s Hospital, London for further investigation o f suspected CJD were recruited into the study. The neuropsychological test batte ry evaluated general intelligence, visual and verbal memory, nominal skills, lit eracy skills, visual perception and visuospatial functions, and visuospatial and executive function. Results: The results indicate that moderate to severe cogni tive decline is a characteristic feature of vCJD. Specifically,verbal and visual memory impairments and executive dysfunction were pervasive in all disease grou ps. Nominal skills were impaired in variant and sporadic CJD, significantly so w hen compared with the inherited prion disease group. Perceptual impairment was l ess frequent in the vCJD group than in the sporadic and inherited groups. Conclu sion: This study confirms the occurrence of generalised cognitive decline in pat ients with vCJD. Although decline in cognitive function ultimately affects all d omains, there is a suggestion that some components of visual perception may be s pared in vCJD. The results also suggest that nominal function may be preserved i n some cases with inherited prion disease.
文摘Superficial siderosis of the CNS is a rare condition, caused by deposition of haemosiderin in the superficial layers of the CNS due to repeated chronic subara chnoid or intraventricular haemorrhage. Typically, the hindbrain structures, esp ecially the cerebellum, are most affected. There is a surprising lack of studies investigating in detail the behavioural functioning of patients with such a con dition. In this study, we document for the first time the cognitive, social and emotional processing of six patients with a confirmed clinical diagnosis of supe rficial siderosis. They were aged between 40 and 62 years, with a mean age of 50 .2 years; four were male. We administered a comprehensive battery of general cog nitive ability and social cognitive tasks. A review of MRI was also undertaken. The findings indicate selective cognitive impairments affecting speech productio n, visual recall memory and executive functions. In addition, a selective patter n of social dysfunction, affecting the ability to represent other people’s ment al states, was found. These behavioural dysfunctions are reported in the context of MRI-documented lesions maximally involving the cerebellum, in particular th e superior vermis, as well as the medial and inferior frontal cortex. These resu lts suggest that superficial siderosis is associated with a distinct pattern of cognitive and social impairments. They are consistent with the recently proposed role of the cerebellum as a modulator of cognitive, social and emotional functi ons.
文摘Background: Knowledge of the evolution of cognitive deficits in Alzheimer dise ase is important for our understanding of disease progression. Previous reports, however, have either lacked detail or have not covered the presymptomatic stage s. Objective: To delineate the onset and progression of clinical and neuropsycho logical abnormalities in familial Alzheimer disease. Methods: Nineteen subjects with familial Alzheimer disease underwent serial clinical and neuropsychological assessments. Eight of these had undergone presymptomatic assessments. The follo w up period was 1 to 10 years (mean, 5 years). The relative timing of the occur rence of 3 markers of disease onset and progression (onset of symptoms, Mini Me ntal State Examination score ≤24, and impaired score on a range of neuropsychol ogical tests) were compared using the binomial exact test. Results: Neurological abnormalities were not prominent, although myoclonus appeared early in some. Mi ni Mental State Examination score was not sensitive to early disease. Memory an d general intelligence deficits appeared at an earlier stage, in some patients w hen pre symptomatic. Perceptual, naming, and especially spelling skills were pr eserved to a late stage. Conclusion: Familial Alzheimer disease may have a long prodromal phase of several years with subtle deficits initially of general intel ligence and memory, while spelling, naming, and perception are relatively preser ved until a late stage.
