Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)

  title={Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)},
  author={Pierre R. Bourque and Jodi Warman-Chardon and Daniel A. Lelli and Lauren LaBerge and Carly Kirshen and Scott H. Bradshaw and Taila Hartley and Kym M. Boycott},
  journal={Neurology: Genetics},
Erythrokeratodermia (EK) is a rare skin disorder, likely genetic and usually present from infancy.1 There is patchy symmetrical involvement over the body surface, manifested in progressive figurate plaques of hyperkeratosis and more transient areas of erythema. There is significant overlap in the clinical and genetic features of the “variabilis” and “progressiva” forms of EK. Restricted cutaneous syndromes of EK have been described associated with mutations in the connexin (GJB3, GJB4, and GJA1… 

A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation

The findings further broaden the spectrum of clinical presentations associated with spinocerebellar ataxia and retinal dystrophy associated with an ELOVL4 mutation.

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34

The findings support the pathogenicity of ELOVL4 mutations in cerebellar dysfunction and provide a detailed characterization of the SCA34 phenotype, with neurocognitive changes typical of the cerebellAR cognitive-affective syndrome.

Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study

This is the first report to illustrate that a heterozygous missense mutation in ELOVL4 leads to neuronal loss accompanied by macrophages laden with PAS-positive material in the pontine base and oligodendroglial degeneration leading to widespread vacuoles in the white matter in SCA34.

The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration

A previously unrecognized role for VLC-SFA in regulating retinal function, particularly transmission from photoreceptors to the inner retina, in the absence of neurodegeneration is revealed.

Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran; Department of Neurology, Firoozgar Hospital, Iran University of Medical Sciences, Tehran, Iran;

W246G Mutant ELOVL4 Impairs Synaptic Plasticity in Parallel and Climbing Fibers and Causes Motor Defects in a Rat Model of SCA34

Spinocerebellar ataxia (SCA) is a neurodegenerative disorder characterized by ataxia and cerebellar atrophy. A number of different mutations gives rise to different types of SCA with characteristic

ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis

This poster presents a poster presented at the 2016 Canadian Academy of Dermatology conference on “Dermatology and Genetics: Towards a Poster Guide for Posterior Investigation of Clostridium difficile,” which aims to establish a histopathological basis for prognosis for skin cancer.

Think of SCA45 in Late‐Onset Familial Ataxias: The First Report from the Indian Subcontinent with a Novel Variant

An 82-year-old male patient presented with insidious onset and slowly progressive imbalance during walking over a period of the last 20 years with a strong family history of late onset gait imbalance involving his mother, four of his elder brothers, and two of their daughters.

The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review

The frequency and presentation of each of the most common forms of spinocerebellar ataxias varies widely and this diversity is particularly dynamic given additional social, demographic, and cultural characteristics.



Erythrokeratodermia variabilis et progressiva

Treatment of EKVP usually involves use of topical keratolytics and emollients resulting in some improvement in hyperkeratosis, and novel therapies targeting connexin hemichannels and gap junctions may become available in the future.

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.

These findings are the first to confirm ELOVL4 as the cause of SCA34, an autosomal dominant complex form of ataxia that was first described in 1972 with the report of a French-Canadian family with multiple affected individuals.

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.

It is confirmed that mutations in ELOVL4 can cause dominantly inherited neurodegeneration severely affecting the cerebellum and brainstem, even when erythrokeratodermia variabilis is absent.

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

The first mutation in ELOVL4 that is associated with SCA and EKV is reported, to the authors' knowledge, and this gene encodes a member of the elongase family, which is responsible for the elongation of very long-chain fatty acids (at least 26 carbons).

Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival

It is suggested that Elovl4 is likely involved in the elongation of C26 and longer fatty acids and the importance of these long chain fatty acids in skin barrier development is implicate.