Search engine for discovering works of Art, research articles, and books related to Art and Culture
Javascript must be enabled to continue!
Krabbe Disease in Adults
View through CrossRef
Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disease caused by mutations in the lysosomal galactocerebrosidase (galactosyl ceramidase) gene. Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood. In contrast, adult patients usually present with progressive spastic paraparesis. Other signs of the disease include peripheral neuropathy, dysarthria, cerebellar ataxia, pes cavus deep sensory signs, tongue atrophy, optic neuropathy, cognitive decline. Cerebrospinal fluid protein concentration is moderately increased in adults. High signals of cortico-spinal tracts on brain MRI are highly suggestive and this typical aspect may be associated with hyper-intensities of optic radiations, and of the posterior part of the corpus callosum.
Title: Krabbe Disease in Adults
Description:
Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disease caused by mutations in the lysosomal galactocerebrosidase (galactosyl ceramidase) gene.
Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood.
In contrast, adult patients usually present with progressive spastic paraparesis.
Other signs of the disease include peripheral neuropathy, dysarthria, cerebellar ataxia, pes cavus deep sensory signs, tongue atrophy, optic neuropathy, cognitive decline.
Cerebrospinal fluid protein concentration is moderately increased in adults.
High signals of cortico-spinal tracts on brain MRI are highly suggestive and this typical aspect may be associated with hyper-intensities of optic radiations, and of the posterior part of the corpus callosum.
Related Results
Flourishing and Floundering Financially in Emerging Adulthood
Flourishing and Floundering Financially in Emerging Adulthood
Abstract
Emerging adults throughout the world are struggling financially, yet the financial domain is a key aspect of the transition to adulthood. This is an evidenc...
Giving Kids a Break
Giving Kids a Break
Completing the book’s central argument, the chapter argues that to have a say over the law is to be entitled to exert influence over it, entitled to be free of obstacles to exercis...
Finding the Right Person to Marry
Finding the Right Person to Marry
This chapter explores beliefs that emerging adults hold about mate selection, or the process people go through to select romantic partners. An overview is provided of mate-selectio...
Rheumatoid arthritis—management
Rheumatoid arthritis—management
Influential guidelines on rheumatoid arthritis (RA) management agree on most key recommendations. Early diagnosis of persistent synovitis, and identification of poor prognostic mar...
A History of Multiple Sclerosis
A History of Multiple Sclerosis
While we now recognize that MS is a common neurological disease, as late as the early twentieth century it was considered a relatively rare condition in Europe and the United State...
Children’s and Juvenile Literature
Children’s and Juvenile Literature
This chapter examines children's and juvenile literature. Many pre-Victorian children did not encounter children's fiction at all. A substantial number, of course, were largely dis...
Media Literacy and Mental Health Care Access
Media Literacy and Mental Health Care Access
In this book, Jesse Scaccia argues that while courses that teach students how news, media, and social media might cause or worsen mental health issues are a promising start, media ...