Ontology highlight
ABSTRACT:
SUBMITTER: Paucar M
PROVIDER: S-EPMC6790008 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Paucar Martin M Taylor Alexander M R AMR Hadjivassiliou Marios M Fogel Brent L BL Svenningsson Per P
Tremor and other hyperkinetic movements (New York, N.Y.) 20191010
<h4>Background</h4>Ataxias represent a challenging group of disorders due to significant clinical overlap. Here, we present a patient with early-onset progressive ataxia, polyneuropathy and discuss how elevation of alpha fetoprotein (AFP) narrows the differential diagnosis.<h4>Case report</h4>Ataxia, polyneuropathy, and mild elevation of AFP are features compatible with ataxia with oculomotor apraxia type 2 (AOA2) but also with ataxia with oculomotor apraxia type 4 (AOA4). A genetic analysis dem ...[more]