Diagnosis of Spinocerebellar Ataxia in the West Indies

Abstract

Background: Access to medical care in many regions is limited by socioeconomic status, at both the individual and the community level. This report describes the diagnostic process of a family residing on an underserved Caribbean island where routine neurological care is typically addressed by general practitioners, and genetic diagnosis is not available through regular medical channels. The diagnosis and management of neurodegenerative disorders is especially challenging in this setting.

Case report: We diagnosed a family with spinocerebellar ataxia type 3 (SCA3) in an underdeveloped nation with limited access to genetic medicine and no full-time neurologist.

Discussion: Molecular diagnosis of the SCAs can be challenging, even in developed countries. In the Caribbean, genetic testing is generally only available at a small number of academic centers. Diagnosis in this family was ultimately made by utilizing an international, pro bono, research-based collaborative process. Although access to appropriate resources, such as speech, physical, and occupational therapies, is limited on this island because of economic and geographical factors, the provision of a diagnosis appeared to be ultimately beneficial for this family. Identification of affected families highlights the need for access to genetic diagnosis in all communities, and can help direct resources where needed.

Keywords: Spinocerebellar ataxia; socioeconomic status.

Figure 1. Autosomal Dominant Inheritance of SCA3 in a Caribbean Family. Solid symbols indicate affected subjects where family history was certain. The red arrow indicates the proband, and the black arrows indicate the three patients who were clinically examined. Intermediate symbols indicate individuals who are possibly affected based on family history. Age of onset and the number of CAG repeats in the ATXN1 gene are indicated.

Figure 2. Brain Magnetic Resonance Imaging of Patient IV-4 Shows Progressive Cerebellar Degeneration and Atrophy of the Medulla, Pons, and Brainstem. (A) Nine years after symptom onset. (B) Fourteen years after symptom onset.