Adult Ataxia Telangiectasia: A Case Report and Description of Genetic and Functional Findings

JOSEFINA PEREZ MATURO; DOLORES GONZALEZ MORON ; MARCELO KAUFFMAN; LUCIA ZAVALA; MARCELA GONZALEZ CID; PATRICIA VEGA; SERGIO RODRIGUEZ QUIROGA

Miami

Congreso; 3rd Pan American Parkinson?s Disease and Movement Disorders Congress; 2020

Objective:To describe the clinical and the genetic study performed in an Argen-tinian patient with an atypical presentation of Ataxia Telangiectasia (AT).Background:Pathogenic variants in ATM gene are responsible forAT, an autosomal recessive neurodegenerative disease. As a result of thelarge size of the gene and the diverse spectrum of ATM variants, diagno-sis of AT could be a challenge.Methods:A 22-year-old female patient, without relevant familyhistory for any neurological or clinical problem. She started at thefirstyear of life with slowly progressive gait disorders and motor clumsinessin upper limbs. On examination, she presented impaired horizontalsmooth pursuit and slow and hypometric saccades. Axial and appen-dicular cerebellar ataxia was evident (SARA scale for 7 points). Distalchorea in upper limbs was present.MRI demonstrated cerebellar atro-phy, the alpha-fetoprotein(AFP) levels, were high (156.2 ng/mL, ref-erence value