Practical recommendations for the clinical evaluation of patients with hereditary ataxia and hereditary spastic paraplegia

Abstract

Hereditary ataxia (HA) and hereditary spastic paraplegia (HSP) are rare diseases; as such, they are rarely managed in general neurology consultations. We present a set of brief, practical recommendations for the diagnosis and management of these patients, as well as a standardised procedure for comprehensive evaluation of disability. We provide definitions for HA and "HA plus," and "pure" and "complicated" HSP; describe the clinical assessment of these patients, indicating the main complementary tests and clinical scales for physical and psychological assessment of the patients; and summarise the available treatments. These recommendations are intended to facilitate daily neurological practice and to unify clinical criteria and disability assessment protocols for patients with HA and HSP.

Keywords: Ataxias hereditarias; Diagnostic recommendations; Disability; Discapacidad; Guia diagnóstica; Hereditary ataxia; Hereditary spastic paraplegia; Paraparesias espásticas hereditarias.