Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2007-5-11
pubmed:abstractText
Here, we report a Japanese man with adult Sandhoff disease who presented with a motor neuron disease phenotype with slow progression. At the age of 42, he noticed weakness in his legs. At the age of 46, he was admitted to our hospital. Neurological examination revealed muscle weakness and atrophy of the upper and lower extremities, and hyperreflexia of the upper extremities. Magnetic resonance imaging showed very mild cerebellar atrophy. We diagnosed him as having atypical amyotrophic lateral sclerosis. Because of the atypical course of motor neuron disease, hexosaminidase activity in peripheral leukocytes was indicated. Asseys of hexosaminidase A and hexosaminidase B showed low activities, and we found a membranous cytoplasmic body in the submucosal nerve, leading to the diagnosis of Sandhoff disease. This is the second case of a Japanese adult with Sandhoff disease presenting with a motor neuron disease phenotype, and to our knowledge, this is the latest age of onset in Japan.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0009-918X
pubmed:author
pubmed:issnType
Print
pubmed:volume
47
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
37-41
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
[A patient with GM2 gangliosidosis presenting with motor neuron disease symptom in his forties].
pubmed:affiliation
Department of Neurology, Akita Red Cross Hospital.
pubmed:publicationType
Journal Article, English Abstract, Case Reports