Objective: 1. To characterise the phenotypic and genotypic spectrum of patients with Friedreich Ataxia

2. To describe the imaging findings and to assess the neuropsychological profile of patients with Friedreich Ataxia

Background: Friedreich ataxia (FA) was first described by Nikolaus Friedreich in 1863. It’s prevalence is 3 per 1,00,000 population. It is an autosomal recessively inherited ataxic syndrome with a slow progression. The age of onset ranges between 2 to 60 years. They have gait ataxia, cerebellar speech, square wave jerks, absent ankle jerks with bilateral extensor plantar response. The non neurologic manifestations are optic atrophy, deafness, hypertrophic cardiomyopathy, diabetes, scoliosis, and pes cavus. Harding described the first criteria. In 1988, FRDA gene called Frataxin was discovered. MRI brain shows atrophy of the cervical cord but rarely atrophy of cerebellum.The neuropsychological profile has shown lower IQ.

Method: It is an Ambispective, Observational Study of patients who satisfied the Harding’s diagnostic criteria of Friedreich Ataxia in a tertiary care hospital from June 2016 till date at the department of Neurology. The study protocol was approved by the Institute’s Ethics Committee and an informed consent was taken from the patient. A detailed history taking and physical examination was done. These patients underwent genetic testing, MRI and neuropsychological assessment.

Results: In our study, there were 25 patients with clinical phenotype satisfying Harding’s criteria for Friedreich ataxia. The number of males were 15(60%) and females were 10(40%). The mean age at onset of symptoms was 11 years. Twenty four(96%) patients had gait ataxia at initial presentation. Twenty one patients had reported speech disturbances(84%). Vision impairment and hearing impairment was reported in one patient. Twenty two(88%) patients had cerebellar dysarthria and 4(16%) had square wave jerks. Cardiac abnormality was found in 5 patients. MRI brain showed cervical cord atrophy in 23(92%) and cerebellar atrophy without cord atrophy in 2(8%). FRDA gene was positive in 21(84%) and 4(16%)were negative. The mean IQ score was 52.33 ± 7.45.

Conclusion: Friedreich Ataxia is a rare autosomal recessive cerebellar ataxia with neurological and non neurological manifestations involving the Frataxin gene. MRI predominantly shows cervical cord atrophy and many patients have low IQ.

MRI shows Cervical cord atrophy

PHENOTYPIC SPECTRUM OF FRIEDREICH ATAXIA TABLE 1

PHENOTYPIC SPECTRUM OF FRIEDREICH ATAXIA TABLE 2

GENOTYPIC, IMAGING AND IQ PROFILE OF FA

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MDS Abstracts - https://www.mdsabstracts.org/abstract/phenotypic-genotypic-imaging-and-neuropsychological-profile-of-friedreich-ataxia/