Results 131 to 140 of about 7,196 (214)

Cerebellar ataxias.

, 2009
PURPOSE OF REVIEW: The term 'cerebellar ataxias' encompasses the various cerebellar disorders encountered during daily practice. Patients exhibit a cerebellar syndrome and can also present with pigmentary retinopathy, extrapyramidal movement disorders ...
Manto, Mario, Marmolino, Daniele
core   +1 more source

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, Volume 293, Issue 12, Page 3502-3527, June 2026.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Redox environment modulates aggregation of ataxin‐3 in vitro — Implications for drug screening of cysteine‐rich proteins

The FEBS Journal, Volume 293, Issue 11, Page 3376-3398, June 2026.
Redox environment modulates in vitro aggregation of Ataxin‐3, the protein implicated in spinocerebellar ataxia type 3. Reducing conditions stabilize native monomers and prevent aggregation, whereas oxidative conditions promote the formation of non‐native conformers and disulfide‐linked oligomers within the Josephin domain (JD).
Martyna Podlasiak, Martina Sollazzo, Elisa Monaca, Raffaele Sabbatella, Maria Agnese Morando, Oleg Chertkov, Laura Puglisi, Martina Mascellino, Anna Fricano, Sandra Macedo‐Ribeiro, Caterina Alfano   +10 more
wiley   +1 more source

Spinocerebellar ataxias: literature review and clinical cases.

Spinocerebellar ataxias are rare neurodegenerative diseases that share a common symptom: cerebellar ataxia. According to the mode of inheritance, these diseases are classified as autosomal dominant, autosomal recessive and X-linked spinocerebellar ...
Truskauskaitė, Urtė,
core  

Novel cell models for the study of spinocerebellar ataxia type 7 pathogenesis and therapy in a South African patient cohort

, 2012
Includes abstract.Includes bibliographical references.Spinocerebellar ataxia type 7 (SCA7) is a dominantly-inherited neurodegenerative disease, resulting from a CAG trinucleotide repeat expansion in the ataxin-7 gene.
Watson, Lauren
core  

FTLD‐TDP‐43 With Motor Neuron Disease Pathology in an Autopsied Patient With Spastic Paraplegia‐30B Harbouring a Homozygous KIF1A Variant

Neuropathology and Applied Neurobiology, Volume 52, Issue 3, June 2026.
KIF1A‐associated neurological disorder (KAND) is a rare hereditary condition caused by KIF1A variants, affecting axonal transport and presenting with a wide clinical spectrum, including hereditary spastic paraplegia. This case of childhood‐onset KAND reveals FTLD‐TDP43 with motor neuron disease pathology emerging late in the disease course, suggesting ...
Rie Saito, Arika Hasegawa, Tetsuya Takahashi, Ryoko Koike, Norikazu Hara, Ramil Gabdulkhaev, Kishin Koh, Akio Kawakami, Yoshihisa Takiyama, Takeshi Ikeuchi, Akiyoshi Kakita   +10 more
wiley   +1 more source

Functional implications of paralog genes in polyglutamine spinocerebellar ataxias. [PDF]

Hum Genet, 2023
Felício D, du Mérac TR, Amorim A, Martins S.   +3 more
europepmc   +1 more source

Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Objective To make the diagnosis for a patient presented with head tremor and cerebellar atrophy by integrating clinical features and accessory examination with genetic testing and to explore the interpretation of genetic testing results.
Kun-ming XIE, Wei-hong GU, Ying HAO, Yuan-yuan CHEN, Jin ZHANG, Xin ZHANG   +5 more
doaj  

Clinical value of vestibulo-ocular reflex in the differentiation of spinocerebellar ataxias. [PDF]

Sci Rep, 2023
Kim JM, Nam TS, Choi SM, Kim BC, Lee SH.
europepmc   +1 more source