Stuart Mossman
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View article: A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele Open
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative disease with onset in mid- to late adulthood. The genetic basis for a large proportion of Caucasian patients …
View article: Inherited <i>RORB</i> pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy
Inherited <i>RORB</i> pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy Open
Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel RORB variants in 11 affected i…
View article: Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion Open
Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebella…
View article: A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M1"><mml:mrow><mml:msup><mml:mrow><mml:mn mathvariant="bold-italic">1352</mml:mn></mml:mrow><mml:mrow><mml:mo>⁎</mml:mo></mml:mrow></mml:msup></mml:mrow></mml:math>)] Causing Episodic Ataxia Type 2
A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg)] Causing Episodic Ataxia Type 2 Open
Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. Episodic ataxia typ…
View article: Age dependent normal horizontal VOR gain of head impulse test as measured with video-oculography
Age dependent normal horizontal VOR gain of head impulse test as measured with video-oculography Open
Background The head impulse test (HIT) is a recognised clinical sign of the high frequency vestibulo-ocular reflex (VOR), which can be quantified with video-oculography. This measures the VOR gain as the ratio of angular eye velocity to an…