Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2002-1-24
pubmed:abstractText
We report a case of 68-year-old woman who was diagnosed spinocerebellar ataxia type 6 (SCA 6) by genomic testing. She presented hypochondriasis, parkinsonism, and ataxia. Since the age of 60, she noted difficulty in walking due to dizziness, and MRI showed minimal cerebellar atrophy. She became unable to walk without assistance at the age 67. She was referred to us when she was 68 years old. She had no family history of cerebellar ataxia, and her general physical examination was normal. Her speech was fluent, with neither slurring nor scanning, and she complained of much anxiety regarding her physical condition and was diagnosed as having hypochondriasis. Neurological examination revealed parkinsonism consisting of small steppage gait, mask-like face, akinesia, rigidity of neck and limbs, and postural instability. She also showed cerebellar signs such as saccadic smooth pursuit, ataxia of upper and lower limbs, and increased tendon reflexes. Her parkinsonism had developed slowly and symmetrically yet she showed a lack of response to levodopa. Our results suggest that the genomic testing is useful for differential diagnosis for the diseases presenting ataxia and parkinsonism, even if the family history is negative.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0006-8969
pubmed:author
pubmed:issnType
Print
pubmed:volume
53
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1119-22
pubmed:dateRevised
2007-2-22
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
[A case of spinocerebellar ataxia type 6 with hypochondriasis and severe parkinsonism].
pubmed:affiliation
Department of Neurology, Kochi Municipal Central Hospital, 2-7-33 Sakurai-cho, Kochi 780-0821, Japan.
pubmed:publicationType
Journal Article, English Abstract, Case Reports