Eye movements in patients with neurodegenerative disorders

TJ Anderson, MR MacAskill - Nature Reviews Neurology, 2013 - nature.com
The neural pathways and brain regions involved in eye movements during ocular fixation
and gaze control include the cerebrum, brainstem and cerebellum, and abnormal eye …

Friedreich's ataxia: pathology, pathogenesis, and molecular genetics

AH Koeppen - Journal of the neurological sciences, 2011 - Elsevier
The pathogenic mutation in Friedreich's ataxia (FRDA) is a homozygous guanine-adenine-
adenine (GAA) trinucleotide repeat expansion on chromosome 9q13 that causes a …

Friedreich's ataxia: clinical features, pathogenesis and management

A Cook, P Giunti - British medical bulletin, 2017 - academic.oup.com
Introduction Friedreich's ataxia is the most common inherited ataxia. Sources of data
Literature search using PubMed with keywords Friedreich's ataxia together with published …

Clinical features of Friedreich's ataxia: classical and atypical phenotypes

MH Parkinson, S Boesch, W Nachbauer… - Journal of …, 2013 - Wiley Online Library
One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative
ataxic syndrome which bears his name, his description remains at the core of the classical …

Copper, iron, and manganese toxicity in neuropsychiatric conditions

B Tarnacka, A Jopowicz, M Maślińska - International journal of molecular …, 2021 - mdpi.com
Copper, manganese, and iron are vital elements required for the appropriate development
and the general preservation of good health. Additionally, these essential metals play key …

Diagnosis and treatment of Friedreich ataxia: a European perspective

JB Schulz, S Boesch, K Bürk, A Dürr, P Giunti… - Nature Reviews …, 2009 - nature.com
Friedreich ataxia is the most frequent hereditary ataxia, with an estimated prevalence of 3–4
cases per 100,000 individuals. This autosomal-recessive neurodegenerative disease is …

Clinical features of Friedreich ataxia

MB Delatycki, LA Corben - Journal of child neurology, 2012 - journals.sagepub.com
Friedreich ataxia, the most common hereditary ataxia, affects approximately 1 per 29,000
white individuals. In about 98% of these individuals, it is due to homozygosity for a GAA …

Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)

DJ Szmulewicz, L Roberts, CA McLean… - Neurology: Clinical …, 2016 - AAN Enterprises
Purpose of review: Diagnosis of ataxic disorders is an important clinical challenge upon
which prognostication, management, patient solace, and, above all, the hope of future …

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video‐oculographic diagnosis

DJ Szmulewicz, JA Waterston… - Annals of the New …, 2011 - Wiley Online Library
The association of bilateral vestibulopathy with cerebellar ataxia was first reported in 1991
and delineated as a distinct syndrome with a characteristic and measurable clinical sign …

Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome

DJ Szmulewicz, JA Waterston, GM Halmagyi… - Neurology, 2011 - AAN Enterprises
Objective: The syndrome of cerebellar ataxia with bilateral vestibulopathy was delineated in
2004. Sensory neuropathy was mentioned in 3 of the 4 patients described. We aimed to …