Alpha-fetoprotein as a biomarker for recessive ataxias

Abstract

. The autosomal recessive ataxias, in-cluding ataxia-telangiectasia (AT) and ataxia with oculomotor apraxia type 2 (AOA2), belong to a special group of he-reditary ataxias with heterogeneous pre-sentation. Simple laboratory studies, like AFP measurement, have been reported to be helpful in the differential diagnosis of ataxias. The purpose of this review is to de-scribe the association of serum AFP with recessive ataxias. We report the clinical and laboratory findings of three patients with a recessive ataxia profile.CASESWe identified two patients with clin-ical and laboratory features of AOA2 and one patient with AT. Informed and written consent were obtained from all participants.Patient 1A 28-year-old man was seen at the neurology department with a twelve-year history of progressively worsening balance. He had been a normal full-term delivery from consanguineous parents. His intelli-gence was normal. Over the years, he de-veloped difficulties in writing and speak-ing. The symptoms progressed slowly over the following years.His neurological examination showed muscle strength 5/5, with absent reflex-es. An ataxic gait with mild enlargement of lower-limb basis, considerable stagger-ing and difficulties with half turn were ob-served. He was unable to perform tan-dem walk (heel-to-toe). Finger-nose and heel-shin ataxia were evident. He present-ed clumsiness of fine finger movements. Gaze-evoked horizontal nystagmus, ocu-lar saccadic overshot, ocular apraxia and cerebellar dysarthria were also present. Vi-bration and position senses were also im-paired. Fundoscopy and visual acuity were normal, and there were no telangiectasia.In order to score the cerebellar dys-function, we used the International Co-operative Ataxia Rating Scale (ICARS). It consists of four parts: postural and stance disorders (7 items; 34 points), limb atax-ia (7 items; 8 points), dysarthria (2 items; 8 points), and oculomotor disorders (3 items; 6 points), with a total of 100 points