The reference OMIM entry for this protein is 117360

Spinocerebellar ataxia 29; sca29
Cerebellar ataxia, congenital nonprogressive, autosomal dominant; cnpca
Cerebellar vermis aplasia
Aplasia of cerebellar vermis; acv

A number sign (#) is used with this entry because spinocerebellar ataxia-29 (SCA29), also known as congenital nonprogressive cerebellar ataxia (CNPCA), is caused by heterozygous mutation in the ITPR1 gene (147265) on chromosome 3p26-p25.

DESCRIPTION

Spinocerebellar ataxia-29 is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). Heterozygous mutation in the ITPR1 gene also causes SCA15 (606658), which is distinguished by later age at onset and normal cognition. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).

CLINICAL FEATURES

Tomiwa et al. (1987) reported affected mother and daughter with nonprogressive congenital cerebellar ataxia and normal intelligence. Computed tomography revealed localized atrophy of the cerebellar vermis. Kattah et al. (1983) described a family in which 5 members had primary position vertical nystagmus. Fenichel and Phillips (1989) described a family in which 4 persons in 3 generations had nonprogressive ataxia from birth. Magnetic resonance imaging in 1 child showed hypoplasia or partial aplasia of the cerebellar vermis. Patients had delayed motor development, truncal ataxia, nystagmus, and normal intelligence. Fenichel and Phillips (1989) were impressed with the fact that 12 of 14 reported persons were female and that 2 affected males were more severely affected than were their female relatives. This led them to suggest both X-linked dominant and autosomal dominant inheritance as possibilities. Rivier and Echenne (1992) described a mother and her 2 daughters with congenital, nonprogressive cerebellar ataxia and atrophy of the cerebellar vermis. Slowly progressive improvement of motor abilities in all 3 patients was an unusual feature. Imamura et al. (1993) described a mother and daughter with early-onset nonprogressive cerebellar ataxia. The mother had a broad-based unsteady gait with frequent falling dating from the first years of life. She had cerebellar signs, including bilateral horizontal nystagmus. MRI at the age of 29 demonstrated increased sulcation of the cerebellar hemispheres and atrophic vermian lobules and hemispheric folia, especially in the anterior part. The basal cistern was enlarged. One of her 2 children, a daughter, was floppy from birth and at 8 months also demonstrated delayed development and truncal ataxia. Cerebellar atrophy, which could not be detected by CT at the age of 12 months, was clearly discernible by MRI at the age of 3. Male-to-male transmission was reported by Kornberg and Shield (1991). A preponderance of female patients seems to have been observed. Dudding et al. (2004) reported a 4-generation Australian kindred of Caucasian ancestry in which at least 20 members had congenital nonprogressive ataxia inherited in an autosomal dominant pattern. All affected individuals had congenital onset of ataxia or delayed walking and wide-based gait as a young child. In addition, all affected members had cognitive impairment of varying degrees, which was more disabling than the ataxia. Although dysarthria was common, nystagmus and dysdiadochokinesis were only observed in 1 and 2 patients, respectively. ... More on the omim web site

Subscribe to this protein entry history

June 30, 2020: Protein entry updated
Automatic update: OMIM entry 117360 was added.

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).