The cerebellar involvement in autism spectrum disorders: from the social brain to mouse models

L Mapelli, T Soda, E D'Angelo, F Prestori - International journal of …, 2022 - mdpi.com
Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders that include
a variety of forms and clinical phenotypes. This heterogeneity complicates the clinical and …

Fragile X-associated tremor/ataxia syndrome—features, mechanisms and management

RJ Hagerman, P Hagerman - Nature Reviews Neurology, 2016 - nature.com
Many physicians are unaware of the many phenotypes associated with the fragile X
premutation, an expansion in the 5′ untranslated region of the fragile X mental retardation …

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

R Hagerman, P Hagerman - The Lancet Neurology, 2013 - thelancet.com
Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by
epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (> 200 repeats) …

Sporadic ataxia with adult onset: classification and diagnostic criteria

T Klockgether - The Lancet Neurology, 2010 - thelancet.com
In most patients with adult-onset progressive ataxia, the condition manifests without an
obvious familial background. The classification and correct diagnosis of such patients …

Expanded clinical phenotype of women with the FMR1 premutation

SM Coffey, K Cook, N Tartaglia… - American Journal of …, 2008 - Wiley Online Library
Fragile X‐associated tremor/ataxia syndrome (FXTAS) is generally considered to be
uncommon in older female carriers of premutation alleles (55–200 CGG repeats) of the …

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathophysiology and clinical implications

AM Cabal-Herrera, N Tassanakijpanich… - International journal of …, 2020 - mdpi.com
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder
seen in older premutation (55–200 CGG repeats) carriers of FMR1. The premutation has …

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

F Tassone, D Protic, EG Allen, AD Archibald, A Baud… - Cells, 2023 - mdpi.com
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is
characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the …

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms

P Hagerman - Acta neuropathologica, 2013 - Springer
Since its discovery in 2001, our understanding of fragile X-associated tremor/ataxia
syndrome (FXTAS) has undergone a remarkable transformation. Initially characterized …

Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers

JA Bourgeois, AL Seritan, EM Casillas… - The Journal of clinical …, 2010 - psychiatrist.com
Objective: The authors studied the lifetime prevalence of DSM-IV-TR psychiatric disorders in
a population of adults with the fragile X premutation. Method: The Structured Clinical …

Cerebellar ataxias

M Manto, D Marmolino - Current opinion in neurology, 2009 - journals.lww.com
Cerebellar ataxias : Current Opinion in Neurology Cerebellar ataxias : Current Opinion in
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