Clinical and genetic diagnostic challenges in presumed hereditary ataxia

Helene Faust; Patricia Duffek; Stephan Drukewitz; Janina Gburek-Augustat; Petra Baum; Christa-Caroline Bergner; Steffen Syrbe; Julian Schröter; Rami Abou Jamra; Denny Popp

PMC · DOI:10.1007/s00415-026-13756-7·March 23, 2026

Clinical and genetic diagnostic challenges in presumed hereditary ataxia

Helene Faust, Patricia Duffek, Stephan Drukewitz, Janina Gburek-Augustat, Petra Baum, Christa-Caroline Bergner, Steffen Syrbe, Julian Schröter, Rami Abou Jamra, Denny Popp

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Abstract

Linked entities

Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.

Genes13

RFC1 ATXN3 HTT ATXN8 CAT ATXN7 CACNA1A ATP6 CNBP ATXN2 FXN ATXN1 DAB1

Proteins13

Species1

Homo sapiens(human · species)

Diseases53

Parkinsonism movement disorder gait disturbance hereditary ataxia extensor plantar reflex pes cavus impaired vestibulo-ocular reflex horizontal gaze nystagmus DM2 Spastic ataxia ataxia SCA myopathic cerebellar atrophy pure sensory neuropathy bradykinesia down-beat nystagmus spasticity hand tremor polyneuropathy vertigo impaired ocular adduction genetic disorders abnormal saccadic eye movements Cerebellar ataxia hearing impairment cataract learning disability axonal and demyelinating motor neuropathy suppression cardiac conduction defects paraparesis cardiac frontocerebellar atrophy peripheral neuropathy central afferent and efferent disorder CANVAS supratentorial deficits developmental delay essential tremor FA HD neurodegenerative dysarthria gait ataxia disturbance of gaze stabilization neurogenetic disorders HSP autosomal-recessive ataxias ptosis cognitive decline amyotrophy muscle weakness

Mutations2

p.(Leu220Pro)m.9185T>C

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Taxonomy

TopicsGenetic Neurodegenerative Diseases · Hereditary Neurological Disorders · Genomics and Rare Diseases