Table 1

 Clinical observations in six members of the Australian SCA 14 family

Case123456(Average)
*Gait ataxia: ±: evident only on hopping within a 30 cm circle; +: difficulty turning and/or tandem gait only; ++: ataxia evident on ordinary walking, no aids required; +++: gait aids required.
**Appendicular ataxia: +: mild; ++: moderate; +++: marked.
§Dysarthria: ±: evident on rapid “la la la …” only; +: difficulty on test phrases only; ++: evident on routine conversation but full intelligibility preserved; +++: intelligibility impaired.
§§Hyperreflexia: +: mild; ++: moderate, with reflex spread from biceps to finger flexors and/or crossed adductor responses; +++: marked, with clonus and/or extensor plantar responses.
¶Nystagmus: +: present; *: upbeat in upgaze; †: upbeat in upgaze, downbeat in primary position (ophthalmoscopic observation); ‡: downbeat in primary position (ophthalmoscopic observation); –: not present.
Eye movements: arrows indicate that the particular abnormal response occurred in downgaze, upgaze, or lateral gaze.
N, no abnormal response; VOR, vestibulo-ocular reflex.
SexFFFFFM
Age at examination535045504531(45.6)
Age of symptom onset404428193027(31.3)
Duration of symptoms (years)1361731154(14.3)
Gait ataxia*++++++++++
Appendicular ataxia**++++++
Dysarthria§++++±±++++
Hyperreflexia§§++++++++++
Nystagmus¶+*+†+‡
Broken-up smooth pursuit↓↑↔N↓↑↔N
Impaired visual suppression VOR↓↑↔↓↑↓↑↓↑↔↓↑↔N
Saccadic hypermetria↓↔↓↔↓↔↓↔↓↔