Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus

Definition:

Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive disorder caused by loss-of-function mutations in DNAJC3. It encodes ER protein which serves to attenuate late phases of ER stress. ACPHD is characterized by juvenile-onset diabetes and central and peripheral neurodegeneration, including ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy.

References:

[1]. Matthis Synofzik, et al. Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. Am J Hum Genet. 2014 Dec 4;95(6):689-97. [Content Brief]

[2]. Warren C Ladiges, et al. Pancreatic beta-cell failure and diabetes in mice with a deletion mutation of the endoplasmic reticulum molecular chaperone gene P58IPK. Diabetes. 2005 Apr;54(4):1074-81. [Content Brief]

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