Discriminative clinical and neuroimaging features of motor-predominant hereditary diffuse leukoencephalopathy with axonal spheroids and primary progressive multiple sclerosis: A preliminary cross-sectional study

2019 ◽  
Vol 31 ◽  
pp. 22-31
Author(s):  
Ban-yu Saitoh ◽  
Ryo Yamasaki ◽  
Akio Hiwatashi ◽  
Takuya Matsushita ◽  
Shintaro Hayashi ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Progressive Multiple Sclerosis ◽  
Cross Sectional Study ◽  
Primary Progressive Multiple Sclerosis ◽  
Sectional Study ◽  
Cross Sectional ◽  
Axonal Spheroids ◽  
Primary Progressive

scholarly journals Perception of stigma in patients with primary progressive multiple sclerosis

2019 ◽  
Vol 5 (2) ◽  
pp. 205521731985271
Author(s):  
Francisco Pérez-Miralles ◽  
Daniel Prefasi ◽  
Antonio García-Merino ◽  
José R Ara ◽  
Guillermo Izquierdo ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Multiple Sclerosis ◽  
Progressive Multiple Sclerosis ◽  
Cross Sectional Study ◽  
Primary Progressive Multiple Sclerosis ◽  
Limited Information ◽  
Cross Sectional ◽  
Primary Progressive ◽  
Multiple Sclerosis Patients

Stigma associated with neurological disorders may contribute to a poor health-related quality of life. However, limited information is available in primary progressive multiple sclerosis. We investigated the presence and impact of stigma in patients with primary progressive multiple sclerosis. A non-interventional, cross-sectional study was conducted. A total of 55 primary progressive multiple sclerosis patients were studied (mean age 55.8±9.5 years, 56.4% male). The median Expanded Disability Status Scale score was 5.5 (4.0–6.5). Stigma prevalence was 78.2% ( n=43). Twenty-four patients (43.6%) were classified as depressed. Scores on the eight-item Stigma Scale for Chronic Illness correlated with physical (rho=0.464, p<0.001) and psychological (rho=0.358, p=0.007) 29-item Multiple Sclerosis Impact Scale subscores. Stigma predicted concurrent depression (odds ratio=1.13; p=0.046). Stigma was highly prevalent with a detrimental effect on quality of life and mood in primary progressive multiple sclerosis.

A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis

2013 ◽  
Vol 19 (10) ◽  
pp. 1367-1370 ◽  
Author(s):  
Ban-yu Saitoh ◽  
Ryo Yamasaki ◽  
Shintaro Hayashi ◽  
Satoshi Yoshimura ◽  
Takahisa Tateishi ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
White Matter ◽  
De Novo ◽  
Progressive Multiple Sclerosis ◽  
De Novo Mutation ◽  
Heterozygous Mutation ◽  
High Signal ◽  
Primary Progressive Multiple Sclerosis ◽  
Axonal Spheroids ◽  
Primary Progressive

We report a sporadic case of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) confirmed by biopsy and colony-stimulating factor 1 receptor ( CSF1R) sequencing. A 28-year-old woman developed progressive spastic gait and dysarthria. Brain T2/FLAIR-weighted magnetic resonance imaging showed bilateral high signal intensity lesions in the parietal deep white matter, which subsequently extended anteriorly. Biopsied brain specimens demonstrated demyelinated white matter tissue with axonal spheroids infiltrated with foamy macrophages, and CD8+ and CD4+ T cells. She had a heterozygous mutation, c.2381T>C (p.782 Ile>Thr), in CSF1R. This is the first genetically proven case of HDLS mimicking primary progressive multiple sclerosis.

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