Clinical spectrum of C9orf72 expansion in a cohort of Huntington’s disease phenocopies

2018 ◽  
Vol 39 (4) ◽  
pp. 741-744 ◽  
Author(s):  
Joana Martins ◽  
Joana Damásio ◽  
Alexandre Mendes ◽  
Nuno Vila-Chã ◽  
José E. Alves ◽  
...  
2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Samir Alkabie ◽  
Daljinder Singh ◽  
Amy Hernandez ◽  
Rhaisa Dumenigo

Psychiatric and behavioral disturbances are common in Huntington’s disease (HD) and contribute significantly to its morbidity and mortality. We herein present the case of a 43-year-old woman with genetically verified HD, whose deteriorating psychiatric condition necessitated multiple inpatient psychiatric hospitalizations and featured a clinical spectrum of neuropsychiatric disturbances classically associated with HD. This paper reviews the literature concerning Huntington’s psychopathology and provides an illustrative case example of its clinical nature.


2010 ◽  
Vol 22 (4) ◽  
pp. 674-677 ◽  
Author(s):  
T. Rune Nielsen ◽  
Peter Bruhn ◽  
Jørgen E. Nielsen ◽  
Lena E. Hjermind

ABSTRACTBehavioral changes and cognitive decline are the core clinical manifestations in the behavioral variant of frontotemporal dementia (bv-FTD). The behavioral changes may include characteristic stereotypic movements. These movements, although without clear purpose, are not involuntary. Involuntary movements are usually not seen in FTD.Two patients with involuntary choreoathetoid movements but otherwise presenting a bv-FTD-phenotype were referred and Huntington's disease (HD) was suspected. The diagnoses of bv-FTD were made after comprehensive assessment and exclusion of other diagnoses, including HD and Huntington's disease-like (HDL) phenotypes. Although a definite diagnosis will require neuropathological confirmation, we conclude that a HDL phenotype may be part of the clinical spectrum of the bv-FTD phenotype.


2008 ◽  
Vol 35 (S 01) ◽  
Author(s):  
M Mühlau ◽  
A Wohlschläger ◽  
C Gaser ◽  
M Valet ◽  
S Nunnemann ◽  
...  

2009 ◽  
Vol 36 (S 02) ◽  
Author(s):  
H Beckmann ◽  
S Rumpf ◽  
N Bechtel ◽  
HW Lange ◽  
C Saft ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document