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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease tremor
Comorbidity C0007758|cerebellar ataxia
Sentences 4
PubMedID- 25885655 Although there was no motor regression, cerebellar ataxia with generalised tremor appeared between 4 and 7 years, followed by nystagmiform movements revealing retinitis pigmentosa.
PubMedID- 25756792 For the remaining two isolated p.s591g patients, one showed a very mild spastic ataxia syndrome that presented around age 50 years, and the other suffered from slowly progressive cerebellar ataxia with intention tremor and polyneuropathy at age 50 years.
PubMedID- 22592286 tremor-spectrum in spinocerebellar ataxia type 3.
PubMedID- 24303038 Bk channels are abundantly expressed in the cerebellum [1], [3], [23] and loss of bk channel function has been shown to lead to cerebellar ataxia with intentional tremor, abnormal gait, and motor coordination [23].

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