We describe a consanguineous family in which two brothers were affected by childhood onset spastic ataxia with optic atrophy and loss of motor and language skills. Through a combination of homozygosity mapping and whole-genome sequencing, we identified a homozygous copy number variant in GLS as the cause. The duplication leads to complete knockout of GLS expression. GLS encodes the brain- and k...

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was first described in the French-Canadian founder population of Quebec in 1978, but genetically confirmed patients have now been reported in individuals from Europe and Japan. Ataxia, dysarthria, spasticity with extensor plantar reflexes, distal muscle wasting, sensorimotor neuropathy and horizontal gaze-evoked nystagmus consti...

BACKGROUND Friedreich ataxia (FRDA) is the commonest form of autosomal recessive ataxia. This study aimed to define the extent of the brain damage in FRDA patients and to identify in vivo markers of neurodegeneration, using diffusion-weighted imaging (DWI). METHODS We studied 27 FRDA patients and 21 healthy volunteers using a 1.5 T scanner. Axial DW images were obtained and mean diffusivity (...

Case presentation: A 11-years-old girl, previously healthy, presented with a respiratory infection. Few weeks later, developed myalgia and proximal weakness. Her symptoms worsened promptly and, in week, she lost the ability to walk. She was admitted our hospital presenting confusion, ataxia, dysmetria, facial paralysis, nuchal rigidity, gaze palsy hyporeflexia. Cerebrospinal fluid (CSF) showed ...

INTRODUCTION Anticollapsin response mediator protein 5 antibody (anti-CRMP5 antibody, also known as anti-CV2 antibody) is usually associated with small-cell lung carcinoma (SCLC) or thymoma. Although optic neuropathy, cerebellar ataxia and chorea are considered typical clinical features of paraneoplastic neurological syndrome (PNS) associated with anti-CRMP5 antibody, the neurological involveme...

The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON). We report a novel mitochondrial point mutation, m.8989G>C, in a patient presenting with neuropathy, ataxia and retinit...

We present a working and flexible classification of inherited ataxic syndromes based on the use of simple tools available to every clinician: a good history (particularly pinpointing the age of onset, the rate of progression and the mode of inheritance) and a neurological examination (identifying the presence of ataxia, deep tendon reflexes in the knee, optic nerve, retinal and/or 8th nerve sig...

A 60-year-old woman was admitted to our hospital because of developing fever, visual loss, weakness in right upper limb, walking difficulty and difficulties of urination and defecation. There were memory disturbance, optic neuritis, ataxia and myelopathy. CSF cells and protein were increased. Cytomegalovirus (CMV) antibodies in the CSF were increased. T2-weighted images of brain MRI showed diff...

Wernicke encephalopathy (WE) is an acute neuropsychiatric syndrome resulting from thiamine (vitamin B1) deficiency, classically characterized by the triad of ophthalmoplegia, confusion, and ataxia. While commonly associated with chronic alcoholism, WE may also occur in the setting of poor nutrition or absorption. We present a 37-year-old woman who underwent laparoscopic sleeve gastrectomy and p...

Patients with posterior cortical atrophy may have dorsal visual system (occipital-parietal) dysfunction (optic ataxia, visuospatial disorientation, and simultanagnosia), ventral visual system (occipital-temporal) dysfunction (pure alexia, prosopagnosia, visual anomia, and agnosia), or both. We report a professional musician with ventral system dysfunction whose first symptom was alexia for musi...