Search tips
Search criteria

Results 1-2 (2)

Clipboard (0)

Select a Filter Below

more »
Year of Publication
Document Types
1.  Prevalence and long-term clinical significance of intracranial atherosclerosis after ischaemic stroke or transient ischaemic attack: a cohort study 
BMJ Open  2013;3(10):e003724.
We investigated the prevalence and long-term risk associated with intracranial atherosclerosis identified during routine evaluation.
This study presents data from a prospective cohort of patients admitted to our stroke unit for thrombolysis evaluation.
Setting and participants
We included 652 with a final diagnosis of ischaemic stroke or transient ischaemic attack (TIA) from April 2009 to December 2011. All patients were acutely evaluated with cerebral CT and CT angiography (CTA). Acute radiological examinations were screened for intracranial arterial stenosis (IAS) or intracranial arterial calcifications (IAC). Intracranial stenosis was grouped into 30–50%, 50–70% and >70% lumen reduction. The extent of IAC was graded as number of vessels affected.
Primary and secondary outcome measure
Patients were followed until July 2013. Recurrence of an ischaemic event (stroke, ischaemic heart disease (IHD) and TIA) was documented through the national chart system. Poor outcome was defined as death or recurrence of ischaemic event.
101 (15.5%) patients showed IAS (70: 30–50%, 29: 50–70% and 16: >70%). Two-hundred and fifteen (33%) patients had no IAC, 339 (52%) in 1–2 vessels and 102 (16%) in >2 vessels. During follow-up, 53 strokes, 20 TIA and 14 IHD occurred, and 95 patients died. The risk of poor outcome was significantly different among different extents of IAS as well as IAC (log-rank test p<0.01 for both). In unadjusted analysis IAS and IAC predicted poor outcome and recurrent ischaemic event. When adjusted, IAS and IAC independently increased the risk of a recurrent ischaemic event (IAS: HR 1.67; CI 1.04 to 2.64 and IAC: HR 1.22; CI 1.02 to 1.47).
Intracranial atherosclerosis detected during acute evaluation predicts an increased risk of recurrent stroke.
PMCID: PMC3808766  PMID: 24148214
2.  Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: A case report 
BMC Neurology  2012;12:73.
The autosomal dominant spinocerebellar ataxias (SCAs) confine a group of rare and heterogeneous disorders, which present with progressive ataxia and numerous other features e.g. peripheral neuropathy, macular degeneration and cognitive impairment, and a subset of these disorders is caused by CAG-repeat expansions in their respective genes. The diagnosing of the SCAs is often difficult due to the phenotypic overlap among several of the subtypes and with other neurodegenerative disorders e.g. Huntington’s disease.
Case presentation
We report a family in which the proband had rapidly progressing cognitive decline and only subtle cerebellar symptoms from age 42. Sequencing of the TATA-box binding protein gene revealed a modest elongation of the CAG/CAA-repeat of only two repeats above the non-pathogenic threshold of 41, confirming a diagnosis of SCA17. Normally, repeats within this range show reduced penetrance and result in a milder disease course with slower progression and later age of onset. Thus, this case presented with an unusual phenotype.
The current case highlights the diagnostic challenge of neurodegenerative disorders and the need for a thorough clinical and paraclinical examination of patients presenting with rapid cognitive decline to make a precise diagnosis on which further genetic counseling and initiation of treatment modalities can be based.
PMCID: PMC3475097  PMID: 22889412
Spinocerebellar ataxia type 17; Dementia; Short CAG repeat expansion

Results 1-2 (2)