English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Autosomal dominant striatal degeneration (ADSD). Clinical description and mapping to 5q13-5q14

Kuhlenbäumer, G., Lüdemann, P., Schirmacher, A., De Vriendt, E., Hünermund, G., Young, P., et al. (2004). Autosomal dominant striatal degeneration (ADSD). Clinical description and mapping to 5q13-5q14. Neurology, 62(12), 2203-2208. doi:10.1212/01.WNL.0000130485.89814.10.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-9FDB-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002C-1F94-0
Genre: Journal Article

Files

show Files
hide Files
:
kuhlenbaeumer.pdf (Publisher version), 248KB
 
File Permalink:
-
Name:
kuhlenbaeumer.pdf
Description:
-
Visibility:
Restricted (Max Planck Institute for Human Cognitive and Brain Sciences, MLNP; )
MIME-Type / Checksum:
application/pdf
Technical Metadata:
Copyright Date:
-
Copyright Info:
eDoc_access: INSTITUT
License:
-

Locators

show
hide
Description:
-

Creators

show
hide
 Creators:
Kuhlenbäumer, G., Author
Lüdemann, Peter, Author
Schirmacher, A., Author
De Vriendt, E., Author
Hünermund, G., Author
Young, P., Author
Hund-Georgiadis, Margret1, Author              
Schuierer, Gerhard, Author
Möller, Harald E.2, Author              
Ringelstein, E. B., Author
van Broeckhoven, C., Author
Timmerman, V., Author
Stögbauer, F., Author
Affiliations:
1Department Cognitive Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634563              
2Methods and Development Unit Nuclear Magnetic Resonance, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634558              

Content

show
hide
Free keywords: -
 Abstract: AB 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.

Details

show
hide
Language(s): eng - English
 Dates: 2004
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 239585
DOI: 10.1212/01.WNL.0000130485.89814.10
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Neurology
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: Cleveland, Ohio [etc.] : Advanstar Communications [etc.]
Pages: - Volume / Issue: 62 (12) Sequence Number: - Start / End Page: 2203 - 2208 Identifier: ISSN: 0028-3878
CoNE: https://pure.mpg.de/cone/journals/resource/954925246073