Gene

Intensive care medicine

Movement disorders

Ataxia

Surgery

Psychiatry

Biochemistry

Pediatrics

Transporter

Genetic testing

Regimen

Internal medicine

Pharmacology

Medicine

Chemistry

Riboflavin

Disease

Pathology

Parkinsonism & Related Disorders

Rapid advances in genetic methodology have led to the verification of a steadily increasing number of disorders manifesting with progressing ataxia with or without additional neurological or non-neurological signs and symptoms. Many of these syndromes are rare, but causative treatment options are available for a few of these, why neurologists increasingly use comprehensive genetic testing to identify individuals with these rare but treatable disorders. However, because of the rarity of these disorders, the evidence base for treatment recommendations may be scarce.

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?