New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. (Q52151019)

23 April 2018

title

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. (English)

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Charlevoix-Saguenay spastic ataxia

main subject

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7

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Dominique Bonneau

22

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Giovanni Stevanin

38

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Sébastien Moutton

Sébastien Moutton

2

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Philippe Convers

Philippe Convers

23

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Caroline Rooryck

Caroline Rooryck

33

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Didier Lacombe

Didier Lacombe

36

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Julie Pilliod

1

Julie Pilliod

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41

Alexandra Durr

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35

Alexis Brice

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26

Didier Hannequin

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Alexandra Afenjar

28

Alexandra Afenjar

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Christelle M Durand

19

Christelle M Durand

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Perrine Charles

31

Perrine Charles

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Sylvie Forlani

8

Sylvie Forlani

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Fanny Mochel

9

Fanny Mochel

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Cyril Goizet

42

Cyril Goizet

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Rodrigue Rossignol

37

Rodrigue Rossignol

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Julie Lavie

3

Julie Lavie

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Nadège Bellance

6

Nadège Bellance

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Isabelle Coupry

43

Isabelle Coupry

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Michel Koenig

15

Michel Koenig

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Lydie Burglen

40

Lydie Burglen

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Sandra Chantot-Bastaraud

29

Sandra Chantot-Bastaraud

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Giovanni Benard

39

Giovanni Benard

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Karine N'Guyen

10

Karine N'Guyen

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Christophe Verny

12

Christophe Verny

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Gaetan Lesca

14

Gaëtan Lesca

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author name string

Elise Maurat

4

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Christophe Hubert

5

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Christel Thauvin-Robinet

11

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Dan Milea

13

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Diana Rodriguez

16

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Nada Houcinat

17

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Julien Van-Gils

18

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Agnès Guichet

20

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Magalie Barth

21

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Elisabeth Maillart

24

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Lucie Guyant-Marechal

25

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Guillaume Fromager

27

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Stéphanie Valence

30

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Patrick Berquin

32

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Julie Bouron

34

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publication date

20 August 2015

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published in

Annals of Neurology

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volume

78

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page(s)

871-886

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issue

6

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Novel compound heterozygous mutations in sacsin-related ataxia

cites work

1 reference

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

21 January 2018

1 reference

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

21 January 2018

1 reference

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients

21 January 2018

1 reference

Retinal segmentation as noninvasive technique to demonstrate hyperplasia in ataxia of Charlevoix-Saguenay.

21 January 2018

1 reference

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

21 January 2018

1 reference

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview

21 January 2018

1 reference

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

21 January 2018

1 reference

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

21 January 2018

1 reference

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

21 January 2018

1 reference

The sacsin repeating region (SRR): a novel Hsp90-related supra-domain associated with neurodegeneration

21 January 2018

1 reference

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

21 January 2018

1 reference

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

21 January 2018

1 reference

The role of dynamin-related protein 1, a mediator of mitochondrial fission, in apoptosis

21 January 2018

1 reference

A decreased mitochondrial DNA content is related to insulin resistance in adolescents

21 January 2018

1 reference

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

21 January 2018

1 reference

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

21 January 2018

1 reference

Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family

21 January 2018

1 reference

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

21 January 2018

1 reference

The autosomal recessive cerebellar ataxias

21 January 2018

1 reference

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

21 January 2018

1 reference

Guidelines for investigating causality of sequence variants in human disease

21 January 2018

1 reference

Novel mutations in the sacsin gene in ataxia patients from Maritime Canada

21 January 2018

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Diversity of ARSACS mutations in French-Canadians

21 January 2018

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Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.

21 January 2018

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Disturbed mitochondrial dynamics and neurodegenerative disorders

21 January 2018

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Loss of the m-AAA protease subunit AFG₃L₂ causes mitochondrial transport defects and tau hyperphosphorylation

21 January 2018

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Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

21 January 2018

1 reference

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

21 January 2018

1 reference

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

21 January 2018

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SPG7 mutations are a common cause of undiagnosed ataxia

21 January 2018

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Mutations in SACS cause atypical and late-onset forms of ARSACS.

21 January 2018

1 reference

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

21 January 2018

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Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay

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Identifiers

DOI

10.1002/ANA.24509

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23 April 2018

PubMed ID

26288984

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23 April 2018