Nature Search

Progress and challenges in sporadic late-onset cerebellar ataxias

Many autoimmune and genetic causes of sporadic late-onset cerebellar ataxia (SLOCA) can now be identified, but some individuals remain categorized as having idiopathic SLOCA. Wirth and colleagues discuss advanced genomic techniques that might identify additional ‘missing’ SLOCA causes, potential prognostic biomarkers and progress towards effective treatments.

Thomas Wirth
Jennifer Faber
Mathieu Anheim
Reviews22 Sept 2025
Nature Reviews Neurology

P: 1-19
Imbalanced motivated behaviors according to motor sign asymmetry in drug-naïve Parkinson’s disease

Matthieu Béreau
Anna Castrioto
Mathieu Anheim
ResearchOpen Access01 Dec 2023
Scientific Reports

Volume: 13, P: 1-7
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)

Claire Guissart
Nathalie Drouot
Michel Koenig
Research16 Dec 2015
European Journal of Human Genetics

Volume: 24, P: 1154-1159
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions

Repeat expansions in the FGF14 gene can cause late-onset cerebellar ataxia (SCA27B), however the defining features of pathogenic expansions remain uncertain. Here, the authors compare the sequence and structure of FGF14 repeat expansions in patients and controls, leading them to suggest a lower pathogenic threshold and emphasizing the importance of sequencing the full expansion for accurate interpretation.

Lars Mohren
Friedrich Erdlenbruch
Christel Depienne
ResearchOpen Access03 Sept 2024
Nature Communications

Volume: 15, P: 1-20
Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

Aymeric Lanore
Christelle Tesson
Eva Camgrand
ResearchOpen Access02 Aug 2025
npj Parkinson's Disease

Volume: 11, P: 1-14
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Most individuals with primary familial brain calcification (PFBC) remain genetically unsolved. Here the authors show that NAA60 biallelic variants cause PFBC, likely via reduced N-terminal acetylation and SLC20A2 levels with impaired phosphate uptake.

Viorica Chelban
Henriette Aksnes
Henry Houlden
ResearchOpen Access13 Mar 2024
Nature Communications

Volume: 15, P: 1-20
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Mehdi Benkirane
Cecilia Marelli
Michel Koenig
Research07 Jul 2021
Genetics in Medicine

Volume: 23, P: 2160-2170
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

L. L. Mariani
S. Rivaud-Péchoux
M. Anheim
ResearchOpen Access10 Nov 2017
Scientific Reports

Volume: 7, P: 1-9
Primary brain calcification: an international study reporting novel variants and associated phenotypes

Eliana Marisa Ramos
Miryam Carecchio
Gaël Nicolas
Research28 Jun 2018
European Journal of Human Genetics

Volume: 26, P: 1462-1477
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Diane Doummar
Christel Dentel
Gabrielle Rudolf
Research28 May 2020
European Journal of Human Genetics

Volume: 28, P: 1403-1413

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Progress and challenges in sporadic late-onset cerebellar ataxias

Imbalanced motivated behaviors according to motor sign asymmetry in drug-naïve Parkinson’s disease

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions

Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

Primary brain calcification: an international study reporting novel variants and associated phenotypes

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

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