Biomaterial Database

Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14. 2004

G Kuhlenbäumer, and P Lüdemann, and A Schirmacher, and E De Vriendt, and G Hünermund, and P Young, and M Hund-Georgiadis, and G Schuierer, and H Möller, and E B Ringelstein, and C Van Broeckhoven, and V Timmerman, and F Stögbauer

Department of Neurology, University of Münster, Germany. gkuhlen@uni-muenster.de

OBJECTIVE To describe the clinical and neuroradiologic features and chromosomal mapping of a novel autosomal dominant disease affecting the basal ganglia. METHODS The authors characterized a large family with autosomal dominant basal ganglia disease (ADSD) clinically and by MRI, MR spectroscopy (MRS), and SPECT. The authors performed a whole genome genetic linkage scan to map the underlying genetic defect. RESULTS The main clinical features of the disease are dysarthria and gait disturbance without any apparent reduction in life expectancy. MRI demonstrated a distinctive lesion pattern restricted mainly to the putamen and caudate nucleus. Genetic linkage analysis localized the causative genetic defect to a 3.25 megabase candidate region on chromosome 5q13.3-q14.1. CONCLUSIONS ADSD is an autosomal dominant basal ganglia disease mapping to chromosome 5q13.3-q14.1.

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
D008279	Magnetic Resonance Imaging	Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.	Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D008297	Male		Males
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011699	Putamen	The largest and most lateral of the BASAL GANGLIA lying between the lateral medullary lamina of the GLOBUS PALLIDUS and the EXTERNAL CAPSULE. It is part of the neostriatum and forms part of the LENTIFORM NUCLEUS along with the GLOBUS PALLIDUS.	Nucleus Putamen,Nucleus Putamens,Putamen, Nucleus,Putamens,Putamens, Nucleus
D002421	Caudate Nucleus	Elongated gray mass of the neostriatum located adjacent to the lateral ventricle of the brain.	Caudatus,Nucleus Caudatus,Caudatus, Nucleus,Nucleus, Caudate
D002874	Chromosome Mapping	Any method used for determining the location of and relative distances between genes on a chromosome.	Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002895	Chromosomes, Human, Pair 5	One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).	Chromosome 5
D004252	DNA Mutational Analysis	Biochemical identification of mutational changes in a nucleotide sequence.	Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D004401	Dysarthria	Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)	Hyperkinetic Dysarthria,Hypokinetic Dysarthria,Scanning Speech,Dysarthosis,Dysarthria, Flaccid,Dysarthria, Guttural,Dysarthria, Mixed,Dysarthria, Scanning,Dysarthria, Spastic,Dysarthoses,Dysarthria, Hyperkinetic,Dysarthria, Hypokinetic,Dysarthrias,Dysarthrias, Flaccid,Dysarthrias, Guttural,Dysarthrias, Hyperkinetic,Dysarthrias, Hypokinetic,Dysarthrias, Mixed,Dysarthrias, Scanning,Dysarthrias, Spastic,Flaccid Dysarthria,Flaccid Dysarthrias,Guttural Dysarthria,Guttural Dysarthrias,Hyperkinetic Dysarthrias,Hypokinetic Dysarthrias,Mixed Dysarthria,Mixed Dysarthrias,Scanning Dysarthria,Scanning Dysarthrias,Scanning Speechs,Spastic Dysarthria,Spastic Dysarthrias,Speechs, Scanning