Adult-Onset Acute Cerebellar Ataxia with Preceding Essential Tremor-like Syndrome Associated with a Novel Variant in ATP1A3. [PDF]
Gattermeyer-Kell L +6 more
europepmc +1 more source
Epigenetic and Brain Structure Covariation Patterns in Typical and Atypical Development
We present a map linking DNA methylation to brain structure in childhood. Genes in which methylation was linked to brain anatomy are highly enriched for those implicated in psychiatric and neurodevelopmental disorders, highlighting potential epigenetic targets for understanding both typical and atypical brain development.
Valentine Chirokoff +5 more
wiley +1 more source
Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia. [PDF]
Maroofian R +11 more
europepmc +1 more source
Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?
Astrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Jenny Lange +4 more
wiley +1 more source
Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics. [PDF]
Theuriet J +47 more
europepmc +1 more source
Voice and Speech in Atypical Parkinsonian Disorders
Background Motor speech disorders are early, common, and functionally limiting features of atypical parkinsonian disorders (APDs) such as progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy (MSA). These impairments are underrecognized and undertreated in neurology clinics.
Federico Rodriguez‐Porcel +48 more
wiley +1 more source
Novel SQSTM1 (c.838G>T) Mutation Identified in Two Unrelated Cases of Cerebellar Ataxia and Gaze Palsy. [PDF]
Hosseini Moshkenani N +2 more
europepmc +1 more source
"Mini Molar Tooth" Sign in POLR3B-Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy. [PDF]
Marsili L +5 more
europepmc +1 more source
Movement Disorders in Hereditary Cerebellar Ataxia. [PDF]
Damásio J +8 more
europepmc +1 more source
Acupuncture for primary autoimmune cerebellar ataxia: A CARE-compliant case report with two-year follow-up. [PDF]
Xu Z, Xu F, Li G, Wu L, Guo H, Wang S.
europepmc +1 more source

