CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

CACNA1B (Cav2.2) Overexpression and Its Association with Clinicopathologic Characteristics and Unfavorable Prognosis in Non-Small Cell Lung Cancer

“…Previous study has linked CACNA1B (Ca v 2.2) to neuropathic pain [43, 44] and CACNA1B (Ca v 2.2) mutation (R1389H) has been linked to myoclonus-dystonia syndrome, a rare movement disorder [45]. Very little is known about its role in carcinogenesis, except overexpression of CACNA1B (Ca v 2.2) was detected in both prostate and breast cancer [15].…”

The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential

“…To our knowledge, no mouse mutations in Ca V 2.2 and Ca V 2.3 channels have been linked to a disease phenotype, perhaps consistent with the absence of a severe phenotype on the corresponding null mice. However, there is a recent report of an apparent gain-of-function human point mutation in the Ca V 2.2 gene, leading to a myoclonus-dystonia phenotype (Groen et al, 2015).…”

“…That said, one could speculate that Ca V 2.2 channel and Ca V 2.3 channel dysfunction may be more subtle in many cases, except for the gain-of-function mutation recently reported in Ca V 2.2 (Groen et al, 2015), and could contribute to disorders such as pain hypersensitivity, addiction, or seizures, perhaps via dysregulation by cellular signaling processes rather than genetic abnormalities in the channels themselves.…”

Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models

“…Rare variants in the Tor1a gene, as well as other genes associated with dystonia, have been reported in cases of sporadic dystonias (Calakos et al, 2010; Dobričić et al, 2015; Dufke et al, 2014; Groen et al, 2015; Groen et al, 2014; Hettich et al, 2014; Kock et al, 2006; Kumar et al, 2014; Lohmann et al, 2012; Nibbeling et al, 2015; Saunders-Pullman et al, 2014; Vemula et al, 2014; Vulinovic et al, 2014; Zech et al, 2014; Ziegan et al, 2014), suggesting this as one potential genetic contribution to disease. However, obtaining formal genetic support, as in association studies, is fundamentally challenged when rare genetic events occur in rare disorders.…”