- Email: [email protected]
CADASIL: Familial neuropsychological deficits in a rare genetic vascular disorder
806
Abstracts from the 19th Annual Meeting
Persons receiving therapy over telehealth were less likely to want to repeat their experience than persons receiving assessment services (p < .05). In the training study, neuropsychologists offered one-on-one videoconferencing training to 32 rural generalist psychologists in rehabilitation and treatment issues related to TBI. All trainees improved on a pre- and posttest measure of TBI-related knowledge. Implications and limitations for use of telehealth in neuropsychology are reviewed.
Liljedahi, E. L., Martelli, M. F., & Grayson, R. Useful Internet D&ability Resources: Results o f a Comprehensive Search. This paper presents the results of a comprehensive search for some of the most useful internet web links for professionals and patients who assess, treat or cope with physical and/or neurologic injury/impairment, including brain injury, stroke, Parkinson's, dementia, and other neurologic diseases, multiple sclerosis, and other neuromuscular diseases, chronic pain, musculoskeletal disorders, etc. Identified resources include numerous organizations, medical, psychological assessment and practical treatment strategies, assessment and treatment reviews--including some of the newest treatment methodologies, support groups, list serve groups for patients of specific diagnostic groups or with specific problem categories, list serve groups for a large number of professional specialties and interests, advocacy resources, disability news, assistive technology resources, computer applications, information search and research databases, almost unlimited types and amounts of downloadable information, downloadable books, government resources, etc., and virtually all of it is accessible without charge. Special emphasis is given to useful resources to assist professionals treating persons with disabilities, as well as resources that can assist persons in challenging impairments by reducing obstacles to, and increasing access to opportunities for increasing independence. Handouts that include a large number of addresses for web site resources will be provided in numerous specific categories.
ADULT GRAND ROUNDS Harris, J. G., & Filley, C. M. C A D A S I L : Familial Neuropsychological Deficits in a Rare Genetic Vascular Disorder. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disease of adult onset. Clinical features include stroke, progressive dementia, migraine, and mood disorder. Cognitive decline may precede or follow stroke, and the dementia has been characterized by frontal lobe deficits and memory impairment. Our goal was to describe detailed clinical features in three generations of a family with this rare disease. This is a study of three members of a family with cognitive impairment and leukoencephalopathy who all have a characteristic C A D A S I L mutation in the notch 3 region of chromosome 19q12. Neuropsychological, neurobehavioral and neuroimaging data are presented. The proband is a 30-year old man who had psychiatric symptoms at age 23 and later onset of cognitive disturbances involving executive function, attention, and memory retrieval. His father, now 52, also had psychiatric symptoms in his 20s, followed by a left hemisphere infarct at age 29 and attenuated cognitive deficits two decades later. The proband's 70-year-old grandmother is institutionalized from progressive dementia that began in her 50s.
Abstracts from the 19th Annual Meeting
807
These cases provide neuropsychological data in CADASIL, a rare example of whitematter dementia. This family also illustrates that psychiatric disturbances may be the presenting feature of this disease, preceding cognitive impairment and dementia.
Pimental, P. A., & Bawden, D. Neuropsychological Consultation in Infectious Diseases: Pathogenes& and Neuropsychological Sequelae in Cysticercosis. Neuropsychologists can find new avenues of consultation-liaison in the area of infectious diseases. Cysticercosis is a disease that occurs via the dissemination of the larvae form of the pork tapeworm, Taenia solium, to various organ systems including the brain. The cysticerci appear to have a predilection for the nervous system in the form of multiple cysts that may be scattered throughout the meninges, ventricles and the brain parenchyma. Hence, a variety of neurologic and neurobehavioral sequelae may occur. Neurocysticercosis is a significant public health problem in Mexico, Central and South America and Asia. Certain U.S. cities, such as San Diego, CA have reported a significant number of cases. Americans traveling to these locations and immigrants from these countries have made this disease more prevalent in the United States. Neuropsychological testing has important clinical utility in the diagnosis and treatment of the neurobehavioral manifestations of neurocysticercosis. The present case study involves a right-handed, 45-year-old white female executive who several years previous suffered a case of alleged food poisoning on a trip to San Diego. Approximately 1 year and 8 months later, she experienced left-arm tingling that was diagnosed as a "pinched nerve." One year and 11 months later, her left leg "went dead," she had "migraine storms," "heard music out of the left ear," and exhibited "left facial numbness." MRI and CT scan findings indicated cysts in the right temporal and right parietal areas. On neuropsychological testing, the patient demonstrated a mild residual right hemisphere syndrome characterized by slightly decreased motor speed in the left hand, mild to moderate visuoperceptual/visuospatial and visuoconstructive deficits, environmental agnosia (topographagnosia), borderline prosopagnosia, mild to moderate recent visual memory deficits and mild left visual neglect. She also exhibited a temporal lobe epilepsy syndrome pattern characterized by a history of sensory anesthesias ("circles of heat" on her left hand that traveled up the left forearm); intermittent confusion; auditory hallucinations (music played out of left ear); derealization; depersonalization; "d6j~ vu;" "jamais vu;" hypergraphia; unexplained rage; and obsessive speech automatisms. Neuropsychological evaluation indicated that the patient's brain injury appeared to specifically involve the right hemisphere with the preponderance of deficits suggestive of right temporal and right parietal lobe dysfunction. Similarly, a battery of electrophysiological testing (including EEG, P300 and evoked potential testing) revealed evidence of right temporal and right central-parietal dysfunction. She was diagnosed with neurocysticercosis (multiple cysts and a brain abscess) and underwent a 14-day course of Praziquantel and steroids. She was initially on Dilantin, which was insufficient for seizure coverage and she was subsequently placed on Tegretol. Neuropsychological testing proved to be of significant value in the implementation of a multifaceted diagnostic approach to neurocysticercosis and in identifying important areas for neurocognitive rehabilitation. Durm, J., Wheatley, R., & Holliday, S. Patient JD Meets Patient EVR: "Acquired Sociopathy" From a Left Temporal Pole Lesion? This case study compares our Patient JD with Damasio's celebrated patient EVR, who had a softball-sized meningioma compressing his frontal lobes but performed normally
Abstracts from the 19th Annual Meeting
Persons receiving therapy over telehealth were less likely to want to repeat their experience than persons receiving assessment services (p < .05). In the training study, neuropsychologists offered one-on-one videoconferencing training to 32 rural generalist psychologists in rehabilitation and treatment issues related to TBI. All trainees improved on a pre- and posttest measure of TBI-related knowledge. Implications and limitations for use of telehealth in neuropsychology are reviewed.
Liljedahi, E. L., Martelli, M. F., & Grayson, R. Useful Internet D&ability Resources: Results o f a Comprehensive Search. This paper presents the results of a comprehensive search for some of the most useful internet web links for professionals and patients who assess, treat or cope with physical and/or neurologic injury/impairment, including brain injury, stroke, Parkinson's, dementia, and other neurologic diseases, multiple sclerosis, and other neuromuscular diseases, chronic pain, musculoskeletal disorders, etc. Identified resources include numerous organizations, medical, psychological assessment and practical treatment strategies, assessment and treatment reviews--including some of the newest treatment methodologies, support groups, list serve groups for patients of specific diagnostic groups or with specific problem categories, list serve groups for a large number of professional specialties and interests, advocacy resources, disability news, assistive technology resources, computer applications, information search and research databases, almost unlimited types and amounts of downloadable information, downloadable books, government resources, etc., and virtually all of it is accessible without charge. Special emphasis is given to useful resources to assist professionals treating persons with disabilities, as well as resources that can assist persons in challenging impairments by reducing obstacles to, and increasing access to opportunities for increasing independence. Handouts that include a large number of addresses for web site resources will be provided in numerous specific categories.
ADULT GRAND ROUNDS Harris, J. G., & Filley, C. M. C A D A S I L : Familial Neuropsychological Deficits in a Rare Genetic Vascular Disorder. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disease of adult onset. Clinical features include stroke, progressive dementia, migraine, and mood disorder. Cognitive decline may precede or follow stroke, and the dementia has been characterized by frontal lobe deficits and memory impairment. Our goal was to describe detailed clinical features in three generations of a family with this rare disease. This is a study of three members of a family with cognitive impairment and leukoencephalopathy who all have a characteristic C A D A S I L mutation in the notch 3 region of chromosome 19q12. Neuropsychological, neurobehavioral and neuroimaging data are presented. The proband is a 30-year old man who had psychiatric symptoms at age 23 and later onset of cognitive disturbances involving executive function, attention, and memory retrieval. His father, now 52, also had psychiatric symptoms in his 20s, followed by a left hemisphere infarct at age 29 and attenuated cognitive deficits two decades later. The proband's 70-year-old grandmother is institutionalized from progressive dementia that began in her 50s.
Abstracts from the 19th Annual Meeting
807
These cases provide neuropsychological data in CADASIL, a rare example of whitematter dementia. This family also illustrates that psychiatric disturbances may be the presenting feature of this disease, preceding cognitive impairment and dementia.
Pimental, P. A., & Bawden, D. Neuropsychological Consultation in Infectious Diseases: Pathogenes& and Neuropsychological Sequelae in Cysticercosis. Neuropsychologists can find new avenues of consultation-liaison in the area of infectious diseases. Cysticercosis is a disease that occurs via the dissemination of the larvae form of the pork tapeworm, Taenia solium, to various organ systems including the brain. The cysticerci appear to have a predilection for the nervous system in the form of multiple cysts that may be scattered throughout the meninges, ventricles and the brain parenchyma. Hence, a variety of neurologic and neurobehavioral sequelae may occur. Neurocysticercosis is a significant public health problem in Mexico, Central and South America and Asia. Certain U.S. cities, such as San Diego, CA have reported a significant number of cases. Americans traveling to these locations and immigrants from these countries have made this disease more prevalent in the United States. Neuropsychological testing has important clinical utility in the diagnosis and treatment of the neurobehavioral manifestations of neurocysticercosis. The present case study involves a right-handed, 45-year-old white female executive who several years previous suffered a case of alleged food poisoning on a trip to San Diego. Approximately 1 year and 8 months later, she experienced left-arm tingling that was diagnosed as a "pinched nerve." One year and 11 months later, her left leg "went dead," she had "migraine storms," "heard music out of the left ear," and exhibited "left facial numbness." MRI and CT scan findings indicated cysts in the right temporal and right parietal areas. On neuropsychological testing, the patient demonstrated a mild residual right hemisphere syndrome characterized by slightly decreased motor speed in the left hand, mild to moderate visuoperceptual/visuospatial and visuoconstructive deficits, environmental agnosia (topographagnosia), borderline prosopagnosia, mild to moderate recent visual memory deficits and mild left visual neglect. She also exhibited a temporal lobe epilepsy syndrome pattern characterized by a history of sensory anesthesias ("circles of heat" on her left hand that traveled up the left forearm); intermittent confusion; auditory hallucinations (music played out of left ear); derealization; depersonalization; "d6j~ vu;" "jamais vu;" hypergraphia; unexplained rage; and obsessive speech automatisms. Neuropsychological evaluation indicated that the patient's brain injury appeared to specifically involve the right hemisphere with the preponderance of deficits suggestive of right temporal and right parietal lobe dysfunction. Similarly, a battery of electrophysiological testing (including EEG, P300 and evoked potential testing) revealed evidence of right temporal and right central-parietal dysfunction. She was diagnosed with neurocysticercosis (multiple cysts and a brain abscess) and underwent a 14-day course of Praziquantel and steroids. She was initially on Dilantin, which was insufficient for seizure coverage and she was subsequently placed on Tegretol. Neuropsychological testing proved to be of significant value in the implementation of a multifaceted diagnostic approach to neurocysticercosis and in identifying important areas for neurocognitive rehabilitation. Durm, J., Wheatley, R., & Holliday, S. Patient JD Meets Patient EVR: "Acquired Sociopathy" From a Left Temporal Pole Lesion? This case study compares our Patient JD with Damasio's celebrated patient EVR, who had a softball-sized meningioma compressing his frontal lobes but performed normally