A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most freq...

Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-exome sequencing (WES) on a large consanguineous Iranian family with hereditary ataxia and oculomot...

Dear Editor, Ataxia with oculomotor apraxia type 1 (AOA1, MIM 208920) is an autosomal recessive disorder characterized by early-onset cerebellar ataxia, polyneuropathy, oculomotor apraxia, hypoalbuminemia, and hypercholesterolemia.1 It is caused by pathogenic variants of APTX, which encodes the aprataxin protein that is involved in DNA strand-break repair.1 We recruited a consanguineous family ...

The inherent complex and pleiotropic phenotype of mitochondrial diseases poses a significant diagnostic challenge for clinicians as well as an analytical barrier for scientists. To overcome these obstacles we compiled a novel database, www.mitodb.com, containing the clinical features of primary mitochondrial diseases. Based on this we developed a number of qualitative and quantitative measures,...

Ataxia-oculomotor apraxia syndrome 1 is an early onset cerebellar ataxia that results from loss of function mutations in the APTX gene, encoding Aprataxin, which contains three conserved domains. The forkhead-associated domain of Aprataxin mediates protein-protein interactions with molecules that respond to DNA damage, but the cellular phenotype of the disease does not appear to be consistent w...

Oxidative DNA damage is one of the earliest detectable events in several neurodegenerative diseases, often preceding the onset of the clinical symptoms. Moreover, neurons in the adult human brain can re-enter the cell division cycle, likely allowing DNA repair. Impairments of DNA repair pathways are reported in neurons of patients suffering from one of several neurodegenative diseases and might...

Corticobasal syndrome (CBS) is the clinical presentation of corticobasal degeneration (CBD), a rare neurodegenerative disorder, with features of both cerebral and basal ganglia involvement. Visual disturbance is uncommonly a predominant symptom but when present can be markedly debilitating. Visual findings primarily manifest as oculomotor apraxia, but significant cognitive impairment may result...