# Clinical and genetic diagnostic challenges in presumed hereditary ataxia

**Authors:** 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 · 2026-03-23

## Full-text entities

- **Genes:** RFC1 (replication factor C subunit 1) [NCBI Gene 5981] {aka A1, CANVAS, MHCBFB, PO-GA, RECC1, RFC}, ATXN3 (ataxin 3) [NCBI Gene 4287] {aka AT3, ATX3, JOS, MJD, MJD1, SCA3}, HTT (huntingtin) [NCBI Gene 3064] {aka HD, IT15, LOMARS}, ATXN8 (ataxin 8) [NCBI Gene 724066], CAT (catalase) [NCBI Gene 847], ATXN7 (ataxin 7) [NCBI Gene 6314] {aka ADCAII, OPCA3, SCA7, SGF73}, CACNA1A (calcium voltage-gated channel subunit alpha1 A) [NCBI Gene 773] {aka APCA, BI, CACNL1A4, CAV2.1, DEE42, EA2}, ATP6 (ATP synthase F0 subunit 6) [NCBI Gene 4508] {aka ATPase6, MTATP6}, CNBP (CCHC-type zinc finger nucleic acid binding protein) [NCBI Gene 7555] {aka CNBP1, DM2, PROMM, RNF163, ZCCHC22, ZNF9}, ATXN2 (ataxin 2) [NCBI Gene 6311] {aka ATX2, SCA2, TNRC13}, FXN (frataxin) [NCBI Gene 2395] {aka CyaY, FA, FARR, FRDA, X25}, ATXN1 (ataxin 1) [NCBI Gene 6310] {aka ATX1, D6S504E, SCA1}, DAB1 (DAB adaptor protein 1) [NCBI Gene 1600] {aka SCA37}
- **Diseases:** Parkinsonism (MESH:D010302), movement disorder (MESH:D009069), gait disturbance (MESH:D020233), hereditary ataxia (MESH:D013132), extensor plantar reflex (MESH:D020195), pes cavus (MESH:D000070589), impaired vestibulo-ocular reflex (MESH:C536346), horizontal gaze nystagmus (MESH:D009759), DM2 (MESH:D009223), Spastic ataxia (MESH:C564815), ataxia (MESH:D001259), SCA (MESH:D020754), myopathic (MESH:D009135), cerebellar atrophy (MESH:D002526), pure sensory neuropathy (MESH:D009477), bradykinesia (MESH:D018476), down-beat nystagmus (MESH:D004314), spasticity (MESH:D009128), hand tremor (MESH:D014202), polyneuropathy (MESH:D011115), vertigo (MESH:D014717), impaired ocular adduction (MESH:C562949), genetic disorders (MESH:D030342), abnormal saccadic eye movements (MESH:C537310), Cerebellar ataxia (MESH:D002524), hearing impairment (MESH:D034381), cataract (MESH:D002386), learning disability (MESH:D007859), axonal and demyelinating motor neuropathy (MESH:D003711), suppression (MESH:D000550), cardiac conduction defects (MESH:D000075224), paraparesis (MESH:D020335), cardiac (MESH:D006331), frontocerebellar atrophy (MESH:D001284), peripheral neuropathy (MESH:D010523), central afferent and efferent disorder (MESH:D011681), CANVAS (MESH:C000726747), supratentorial deficits (MESH:D015173), developmental delay (MESH:D002658), essential tremor (MESH:D020329), FA (MESH:D005621), HD (MESH:D006816), neurodegenerative (MESH:D019636), dysarthria (MESH:D004401), gait ataxia (MESH:D020234), disturbance of gaze stabilization (MESH:D043171), neurogenetic disorders (MESH:D020271), HSP (MESH:D015419), autosomal-recessive ataxias (MESH:C565188), ptosis (MESH:C564553), cognitive decline (MESH:D003072), amyotrophy (MESH:D003929), muscle weakness (MESH:D018908)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** p.(Leu220Pro), m.9185T>C

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC13009057/full.md

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Source: https://tomesphere.com/paper/PMC13009057