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Query: UMLS:C0004134 (
ataxia
)
15,886
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Spinocerebellar ataxia 1 (SCA1) is a devastating neurodegenerative disease associated with cerebellar degeneration and motor deficits. However, many patients also exhibit neuropsychiatric impairments such as depression and
apathy
; nevertheless, the existence of a causal link between the psychiatric symptoms and SCA1 neuropathology remains controversial. This study aimed to explore behavioral deficits in a knock-in mouse SCA1 (SCA1
154Q/2Q
) model and to identify the underlying neuropathology. We found that the SCA1 mice exhibit previously undescribed behavioral impairments such as increased anxiety- and depressive-like behavior and reduced prepulse inhibition and cognitive flexibility. Surprisingly, non-motor deficits characterize the early SCA1 stage in mice better than does
ataxia
. Moreover, the SCA1 mice exhibit significant hippocampal atrophy with decreased plasticity-related markers and markedly impaired neurogenesis. Interestingly, the hippocampal atrophy commences earlier than the cerebellar degeneration and directly reflects the individual severity of some of the behavioral deficits. Finally, mitochondrial respirometry suggests profound mitochondrial dysfunction in the hippocampus, but not in the cerebellum of the young SCA1 mice. These findings imply the essential role of hippocampal impairments, associated with profound mitochondrial dysfunction, in SCA1 behavioral deficits. Moreover, they underline the view of SCA1 as a complex neurodegenerative disease and suggest new avenues in the search for novel SCA1 therapies.
...
PMID:Hippocampal mitochondrial dysfunction and psychiatric-relevant behavioral deficits in spinocerebellar ataxia 1 mouse model. 3221 65
Plus-minus lid syndrome is a rare manifestation of midbrain infarct, characterized by ptosis of one eye and lid retraction in the other eye. It has also been described in ocular myasthenia gravis, orbital myositis, or after lesions of the oculomotor nerve. Our patient was a 55-year-old man with hypertension and atrial fibrillation, who presented to us with acute onset left-sided ptosis and right-sided eyelid retraction. He was apathic and had right-sided
ataxia
. His MRI of the brain showed acute infarct involving the paramedian midbrain. To our knowledge, severe
apathy
and resultant executive function disorder have not been described previously in a patient having plus-minus lid syndrome with
ataxia
.
...
PMID:Plus-minus lid syndrome with ataxia and severe apathy-A rare manifestation of midbrain infarct. 3267 53
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