Alternative titles; symbols
SNOMEDCT: 718754008; ORPHA: 79136; DO: 0050992;
For a phenotypic description and a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120).
In 16 members of a white, rural North Carolina family, Farmer and Mustian (1963) described recurrent attacks of vertigo, diplopia, and ataxia beginning in early adulthood. Slowly progressive cerebellar ataxia occurred in some. Vance et al. (1984) identified a second extensively affected kindred which, like the family of Farmer and Mustian (1963), lived in North Carolina. Although no relationship between the 2 kindreds could be established, such was suspected. Small et al. (1996) examined ocular motility in these families.
Damji et al. (1996) isolated DNA from 19 affected individuals from the 2 multigenerational North Carolina families originally described by Farmer and Mustian (1963) and Vance et al. (1984) who had periodic vestibulocerebellar ataxia in an autosomal dominant pedigree pattern. The disorder was characterized by defective smooth pursuit, gaze-evoked nystagmus, ataxia, and vertigo. The age of onset ranged from the third to the sixth decade.
In the families originally described by Farmer and Mustian (1963) and Vance et al. (1984), Damji et al. (1996) excluded linkage to loci linked to EA1 and EA2 (108500), as well as to spinocerebellar ataxia types 1 (164400), 2 (183090), 3 (109150), 4 (600223), and 5 (600224).
Damji et al. (1996) symbolized the disorder PATX for periodic ataxia.
Although Steckley et al. (2001) referred to PATX as episodic ataxia-3 (EA3) and the disorder in 606554 as EA4, the same group (Cader et al., 2005) later referred to the disorder described by Steckley et al. (2001) in 606554 as EA3. We have thus chosen to designate PATX as episodic ataxia-4 (EA4).
Cader, M. Z., Steckley, J. L., Dyment, D. A., McLachlan, R. S., Ebers, G. C. A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. Neurology 65: 156-158, 2005. [PubMed: 16009908] [Full Text: https://doi.org/10.1212/01.wnl.0000167186.05465.7c]
Damji, K. F., Allingham, R. R., Pollock, S. C., Small, K., Lewis, K. E., Stajich, J. M., Yamaoka, L. H., Vance, J. M., Pericak-Vance, M. A. Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. Arch. Neurol. 53: 338-344, 1996. [PubMed: 8929156] [Full Text: https://doi.org/10.1001/archneur.1996.00550040074016]
Farmer, T. W., Mustian, V. M. Vestibulo-cerebellar ataxia: a newly defined hereditary syndrome with periodic manifestations. Arch. Neurol. 8: 471-480, 1963. [PubMed: 13944410] [Full Text: https://doi.org/10.1001/archneur.1963.00460050021002]
Small, K. W., Pollock, S. C., Vance, J. M., Stajich, J. M., Pericak-Vance, M. Ocular motility in North Carolina autosomal dominant ataxia. J. Neuroophthalmol. 16: 91-95, 1996. [PubMed: 8797163] [Full Text: https://doi.org/10.3109/01658109609009667]
Steckley, J. L., Ebers, G. C., Cader, M. Z., McLachlan, R. S. An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology 57: 1499-1502, 2001. [PubMed: 11673600] [Full Text: https://doi.org/10.1212/wnl.57.8.1499]
Vance, J. M., Pericak-Vance, M. A., Payne, C. S., Coin, J. T., Olanow, C. W. Linkage and genetic analysis in adult onset periodic vestibulo-cerebellar ataxia: report of a new family. (Abstract) Am. J. Hum. Genet. 36: 78S, 1984.