We analysed a case of a 45-year-old unconscious woman who died three days after admission to the hospital. Neuropathological examination revealed massive accumulation of polyglucosan bodies (PBs) in the cortex and white matter of the whole brain. [ncbi.nlm.nih.gov]

The two affected siblings, a 64-year-old man and his 67-year-old sister who had complained of urinary urgency and sporadic incontinence and also progressive gait difficulty for 6 and 7 years respectively, had severely impaired deep sensations on direct [ncbi.nlm.nih.gov]

Log In or Register to continue Dec 16, 2016 Posted by in NEUROLOGY Comments Off on Gait Imbalance, Urinary Urgency, and Mild Cognitive Dysfunction – A Case of Adult Polyglucosan Body Disease [neupsykey.com]

Once exome sequencing becomes routine – say 5 years from now – a health care professional evaluating an adult with distal limb weakness, profound fatigue, and urinary urgency can pop a blood sample into a device that will quickly detect, or rule out, [blogs.plos.org]

One year later she had developed poor balance, frequent falls, tremor predominantly affecting her right hand, urinary urgency, and impaired concentration and episodic memory. [jnnp.bmj.com]

Bulbar and limb weakness progressed, and she developed dementia. She died 6 years after onset. At autopsy, extensive polyglucosan body formation was found in many regions of the central nervous system. [ncbi.nlm.nih.gov]

Once exome sequencing becomes routine – say 5 years from now – a health care professional evaluating an adult with distal limb weakness, profound fatigue, and urinary urgency can pop a blood sample into a device that will quickly detect, or rule out, [blogs.plos.org]

REPORT OF A CASE A 46-year-old woman initially presented with a 4-year history of resting tremor. The tremor responded to levodopa therapy. [ncbi.nlm.nih.gov]

In her limbs she had a coarse resting tremor, most marked in the right arm with no associated cerebellar signs but cogwheeling rigidity and bradykinesia. [jnnp.bmj.com]

Fabry's disease is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations; neurological manifestations include cerebrovascular accidents, small-fibre neuropathy and autonomic dysfunction. [ncbi.nlm.nih.gov]

Autopsy revealed atrophy of the cord, diffuse gliosis, and numerous corpora amylacea. [ncbi.nlm.nih.gov]

Autopsy revealed atrophy of the cord, diffuse gliosis, and numerous corpora amylacea. Lippincott-Raven Publishers. Related Articles [journals.lww.com]

RM: leucoencephalopathy and basal ganglia calcification at CT White matter sclerosis, with myelin loss, astrocytic increase and fibrillar gliosis Cases mainly in Japan and Finland. [docplayer.it]