Biomaterial Database

Interest in genetic testing in pallido-ponto-nigral degeneration (PPND): a family with frontotemporal dementia with Parkinsonism linked to chromosome 17. 2001

C A McRae, and G Diem, and T G Yamazaki, and A Mitek, and Z K Wszolek

University of Denver, Denver, Colorado, USA.

The specific mutation on the tau gene responsible for a neurodegenerative disease known as pallido-ponto-nigral degeneration (PPND) was recently located. PPND family members are at risk for an autosomal dominant form of frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17). This study investigated whether individuals in this family would consider presymptomatic genetic testing. Surveys were sent to 66 at-risk individuals in the family; replies were received from 20 (30%). Family members were asked if they would consider having testing now or in the future, and to indicate their reasons for and against proceeding with testing. Fifty per cent (n=10) of those who were at risk and who responded indicated they would consider testing now, and 55% (n=11) would think about it in the future. The most frequently cited reasons to proceed with testing were to 'collaborate with research' (70%) and to 'know if my children are at risk' (45%). The most frequently cited reason not to pursue testing was 'I can enjoy my life more fully by not knowing' (50%). Results suggest that interest in determining whether they will manifest PPND is generally low among at-risk members of this family, despite wide support and participation in other research studies.

UI	MeSH Term	Description	Entries
D008040	Genetic Linkage	The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.	Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D011149	Pons	The front part of the hindbrain (RHOMBENCEPHALON) that lies between the MEDULLA and the midbrain (MESENCEPHALON) ventral to the cerebellum. It is composed of two parts, the dorsal and the ventral. The pons serves as a relay station for neural pathways between the CEREBELLUM to the CEREBRUM.	Pons Varolii,Ponte,Pons Varolius,Pontes,Varolii, Pons,Varolius, Pons
D002886	Chromosomes, Human, Pair 17	A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.	Chromosome 17
D003704	Dementia	An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.	Senile Paranoid Dementia,Amentia,Familial Dementia,Amentias,Dementia, Familial,Dementias,Dementias, Familial,Dementias, Senile Paranoid,Familial Dementias,Paranoid Dementia, Senile,Paranoid Dementias, Senile,Senile Paranoid Dementias
D005820	Genetic Testing	Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.	Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D005917	Globus Pallidus	The representation of the phylogenetically oldest part of the corpus striatum called the paleostriatum. It forms the smaller, more medial part of the lentiform nucleus.	Paleostriatum,Pallidum,Pallidums
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013378	Substantia Nigra	The black substance in the ventral midbrain or the nucleus of cells containing the black substance. These cells produce DOPAMINE, an important neurotransmitter in regulation of the sensorimotor system and mood. The dark colored MELANIN is a by-product of dopamine synthesis.	Nigra, Substantia,Nigras, Substantia,Substantia Nigras
D019636	Neurodegenerative Diseases	Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.	Degenerative Diseases, Nervous System,Degenerative Diseases, Central Nervous System,Degenerative Diseases, Neurologic,Degenerative Diseases, Spinal Cord,Degenerative Neurologic Diseases,Degenerative Neurologic Disorders,Nervous System Degenerative Diseases,Neurodegenerative Disorders,Neurologic Degenerative Conditions,Neurologic Degenerative Diseases,Neurologic Diseases, Degenerative,Degenerative Condition, Neurologic,Degenerative Conditions, Neurologic,Degenerative Neurologic Disease,Degenerative Neurologic Disorder,Neurodegenerative Disease,Neurodegenerative Disorder,Neurologic Degenerative Condition,Neurologic Degenerative Disease,Neurologic Disease, Degenerative,Neurologic Disorder, Degenerative,Neurologic Disorders, Degenerative
D020734	Parkinsonian Disorders	A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.	Autosomal Recessive Juvenile Parkinsonism,Familial Juvenile Parkinsonism,Parkinsonian Syndrome,Parkinsonism,Parkinsonism, Experimental,Parkinsonism, Juvenile,Ramsay Hunt Paralysis Syndrome,Autosomal Dominant Juvenile Parkinson Disease,Autosomal Dominant Juvenile Parkinsonism,Autosomal Dominant Parkinsonism,Autosomal Recessive Juvenile Parkinson Disease,Autosomal Recessive Parkinsonism,Chromosome 6-Linked Autosomal Recessive Parkinsonism,Experimental Parkinson Disease,Experimental Parkinsonism,Experimental Parkinsonism, MPTP-Induced,Familial Parkinson Disease, Autosomal Recessive,Juvenile Parkinson Disease,Juvenile Parkinson Disease, Autosomal Dominant,Juvenile Parkinson Disease, Autosomal Recessive,Juvenile Parkinsonism, Autosomal Dominant,Juvenile Parkinsonism, Autosomal Recessive,MPTP-Induced Experimental Parkinsonism,Parkinson Disease 2,Parkinson Disease 2, Autosomal Recessive Juvenile,Parkinson Disease Autosomal Recessive, Early Onset,Parkinson Disease, Autosomal Dominant. Juvenile,Parkinson Disease, Experimental,Parkinson Disease, Familial, Autosomal Recessive,Parkinson Disease, Juvenile,Parkinson Disease, Juvenile, Autosomal Dominant,Parkinson Disease, Juvenile, Autosomal Recessive,Parkinsonian Diseases,Parkinsonian Syndromes,Parkinsonism, Early Onset, with Diurnal Fluctuation,Parkinsonism, Early-Onset, With Diurnal Fluctuation,Parkinsonism, Juvenile, Autosomal Dominant,Parkinsonism, Juvenile, Autosomal Recessive,Chromosome 6 Linked Autosomal Recessive Parkinsonism,Diseases, Experimental Parkinson,Dominant Parkinsonism, Autosomal,Experimental Parkinson Diseases,Experimental Parkinsonism, MPTP Induced,Experimental Parkinsonisms,Juvenile Parkinsonism,Juvenile Parkinsonism, Familial,Juvenile Parkinsonisms,MPTP Induced Experimental Parkinsonism,Parkinson Diseases, Experimental,Parkinsonism, Autosomal Dominant,Parkinsonism, Autosomal Recessive,Parkinsonism, Familial Juvenile,Parkinsonism, MPTP-Induced Experimental,Parkinsonisms, Experimental,Parkinsonisms, Juvenile,Recessive Parkinsonism, Autosomal