Table 1

Clinical observations in six members of the Australian SCA 14 family

Case	1	2	3	4	5	6	(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.
Sex	F	F	F	F	F	M
Age at examination	53	50	45	50	45	31	(45.6)
Age of symptom onset	40	44	28	19	30	27	(31.3)
Duration of symptoms (years)	13	6	17	31	15	4	(14.3)
Gait ataxia*	++	++	+	++	++	+
Appendicular ataxia**	+	+	+	+	+	+
Dysarthria§	++	++	±	±	++	++
Hyperreflexia§§	+	++	++	++	+	++
Nystagmus¶	+*	–	–	+†	+‡	–
Broken-up smooth pursuit	↓↑↔	N	↓	↓↑↔	↔	N
Impaired visual suppression VOR	↓↑↔	↓↑	↓↑	↓↑↔	↓↑↔	N
Saccadic hypermetria	↓↔	↓	↓↔	↓↔	↓↔	↓↔