Sep 2026· Movement Disorders Clinical Practice· 0 citations· 8 references
Medicine
TL;DR
The potential role of PTEN in the pathogenesis of parkinsonism is discussed, and the spectrum of reported neurological features of PHTS is expanded to include hitherto unreported levodopa-responsive parkinsonism.
Abstract
PTEN hamartoma tumor syndromes (PHTS) due to variants in the PTEN gene lead to disordered cellular proliferation, developmental abnormalities and malignancy. The expanding spectrum of neurological disorders associated with PHTS is increasingly recognized. We previously reported a case of PHTS with isolated upper limb action tremor, leukoencephalopathy and basal ganglia calci fi cation. 1 Follow up has now revealed hitherto unreported levodopa-responsive parkinsonism. We discuss here the potential role of PTEN in the pathogenesis of parkinsonism, and expand the spectrum of reported neurological features of PHTS
Increasing evidence suggests that ATXN2-related disorders represent a clinical spectrum with variable presentations. We report a 70-year-old Chinese man carrying an ATXN2 allele with 34 CAG repeats (20/34 repeats). Cerebellar atrophy was incidentally noted on magnetic resonance imaging (MRI) more than ten years before...
Xin Huang, Yan Ma, Xin-Ran Ma et al.· Neurological Sciences· 0 citations
This case further supports generalized dystonia as a recognizable manifestation of TCF20‐related disorders and suggests a possible link between TCF20 dysfunction and globus pallidus involvement in dystonia pathophysiology.
M. Kılıç, P. Dušek, Ibrahim Kamaci et al.· Annals of Clinical and Trans...· 0 citations
A patient with a TUBA4A pathogenic variant with adulthood‐onset genetic myasthenic syndrome accompanied by myopathy and infertility is described to highlight the neuromuscular junction defect as the main feature of the patient's phenotype.
Margherita Milone, Stefan Nicolau, Zhiyv Niu et al.· European Journal of Neurolog...· 0 citations
This is the first report of neuropathology in biallelic RFC1 expansion‐associated Parkinson’s disease (PD). It shows a synucleinopathy of intraneuronal Lewy bodies consistent with the clinical PD diagnosis while neuropathological CANVAS (Cerebellar Ataxia with Neuropathy and bilateral Vestibular Areflexia) features wer...
J. Sipilä, T. Rauramaa, Laura Kytövuori et al.· Brain Pathology· 0 citations
A Turkish family with a novel TUBB4A nucleotide variant with late-onset spasticity, tremor and mild frontal executive dysfunction is characterized, suggesting distributed structural abnormalities despite relatively mild clinical expression.
E. Hacılar, B. Samancı, U. Ay et al.· Neurogenetics· 0 citations
