[HTML][HTML] From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing

E Indelicato, S Boesch - Frontiers in Neurology, 2021 - frontiersin.org
Ion channel dysfunction is a key pathological substrate of episodic neurological disorders. A
classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for …

Primary episodic ataxias: diagnosis, pathogenesis and treatment

JC Jen, TD Graves, EJ Hess, MG Hanna, RC Griggs… - Brain, 2007 - academic.oup.com
Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks
of imbalance and incoordination. Mutations in two genes, KCNA1 and CACNA1A, cause the …

Vertigo and dizziness

T Brandt, M Dieterich, M Strupp - 2005 - Springer
The last 10 years following the fi rst edition of our book have witnessed many new findings
on epidemiology, diagnostics, pathophysiology, and–especially important–the course and …

Consensus paper: management of degenerative cerebellar disorders

W Ilg, AJ Bastian, S Boesch, RG Burciu, P Celnik… - The Cerebellum, 2014 - Springer
Abstract Treatment of motor symptoms of degenerative cerebellar ataxia remains difficult.
Yet there are recent developments that are likely to lead to significant improvements in the …

What clinical disorders tell us about the neural control of saccadic eye movements

S Ramat, RJ Leigh, DS Zee, LM Optican - Brain, 2007 - academic.oup.com
Saccades are rapid eye movements that redirect the fovea from one object to another. A
great deal has been learned about the anatomy and physiology of saccades, making them …

[HTML][HTML] Neuromodulation of the cerebellum rescues movement in a mouse model of ataxia

LN Miterko, T Lin, J Zhou, ME van der Heijden… - Nature …, 2021 - nature.com
Deep brain stimulation (DBS) relieves motor dysfunction in Parkinson's disease, and other
movement disorders. Here, we demonstrate the potential benefits of DBS in a model of …

Paroxysmal dyskinesias

KP Bhatia - Movement Disorders, 2011 - Wiley Online Library
Paroxysmal movement disorders are a relatively rare and heterogenous group of conditions
manifesting as episodic dyskinesia lasting a brief duration. Three forms are clearly …

A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias

M Strupp, R Kalla, J Claassen, C Adrion, U Mansmann… - Neurology, 2011 - AAN Enterprises
Objective: The therapeutic effects of 4-aminopyridine (4AP) were investigated in a
randomized, double-blind, crossover trial in 10 subjects with familial episodic ataxia with …

[HTML][HTML] Diagnosis and treatment of vertigo and dizziness

M Strupp, T Brandt - Deutsches Ärzteblatt International, 2008 - ncbi.nlm.nih.gov
Results A careful history remains the cornerstone of diagnosis. Once the correct diagnosis is
made, specific and effective treatments are available for most peripheral, central, and …

[HTML][HTML] Pharmacotherapy of vestibular and ocular motor disorders, including nystagmus

M Strupp, MJ Thurtell, AG Shaikh, T Brandt, DS Zee… - Journal of …, 2011 - Springer
We review current pharmacological treatments for peripheral and central vestibular
disorders, and ocular motor disorders that impair vision, especially pathological nystagmus …