A GROUP OF PORTUGUESE neurologists and epidemiologists, led by Paula Coutinho, MD, PhD, and Jorge Sequiros, MD, PhD, launched a study of hereditary ataxias and spastic paraplegias in 1993. Their stated purpose1 was to survey the prevalence and clinical and genetic bases of these illnesses in a defined population. Their most recent report2 indicates that they have surveyed approximately half of the population of Portugal, a country of 9.8 million persons. The advantages of this approach are obvious. The distortions of case-based surveys and collections of patients can be avoided. Incorrect diagnoses can be revised, clustering of patients can be investigated, and clinical variations in known genetic syndromes can be found. The unexpected also may be encountered, ie, a new disease or a new genetic marker.
Dawson DM. Recessive Ataxia With Ocular Motor Apraxia. Arch Neurol. 2001;58(2):173–174. doi:10.1001/archneur.58.2.173