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Loss-of-function biallelic variants were associated with a severer phenotype characterized, in 2016, by encephalopathy, intellectual disability, central hypotonia, psychomotor delay, chorea, and optic atrophy, akin to mitochondrial diseases, without broader systemic involvement. A subsequent study from 2018, described 11 individuals with ATP8A2 mutations, figuring hearing loss and cerebellar ataxia with or without cerebellar atrophy in some patients. 1 Heidari et al 4 proposed an ATP8A2 phenotype expansion to include dystonia, below average head circumference, mild optic atrophy, developmental delay, and teeth abnormalities.This paper describes a new pathogenic variant in the ATP8A2 gene, disclosing a complex phenotype, which can mimicry a mitochondrial disease minus multisystemic impairment. In patients presenting with developmental delay, optic atrophy, bilateral ptosis, movement disorders, and cerebellar ataxia, ATP8A2 mutations must feature in differential diagnosis.

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Since the late 19th century, when several inherited neurological disorders were described, the close relationship between Neurology and heredity were well documented by several authors in a pre-genetic era. The term Neurogenetics came to integrate two large sciences and clinical practices: Neurology and Genetics. Neurogenetics is the emerging field that studies the correlation between genetic code and the development and function of the nervous system, including behavioral traits, personality and neurological diseases. In this historical note, a timeline shows the main events and contributors since the first reports of neurogenetic diseases until the current days. In the recent years, neurologists are experiencing much broader use of new genetic diagnosis techniques in clinical practice. Thus, new challenges are arising in diagnostic approach, ethical considerations, and therapeutic options. This article aims to summarize the main historical hallmarks of Neurogenetics, from the pre-DNA era to the present, and the future directions of the field.

A 28-year-old woman presented with progressive gait ataxia and speech impairment that started 7 years ago. Parents were nonconsanguineous and family history was unremarkable. During the last 2 years, she developed sialorrhea and dysphagia. Recently, she was diagnosed with depression, and her cognition was mildly impaired. She did not have organomegaly, nor sleep disorders, and the magnetic resonance imaging (MRI) showed mildly enlarged ventricles. Neurological examination disclosed dysarthria, axial and appendicular cerebellar ataxia, neck and truncal dystonia with left tilt, reduced arm swing on the left, and abnormal ocular movements (Video 1).