Table 1.

Summary of Boucher–Neuhäuser cases reported since 1969

References	Cases	Consanguinity/ ethnicity	Age at case description/ last examination	Mutation (s)	Ataxia onset age	Age at HH Dx and/ or TX	Ocular symptom/age of onset or Dx	Fundoscopic findings/Dx age	Other neurologic findings	Imaging or autopsy findings
This study	1 woman	No/mixed Spanish-Italian	59	Compound heterozygous [p.Ser1045Leu; p.Ser1173Arg]	51	11	Diplopia/43	ChD/58	CI Hyporreflexia	CA
Synofzik et al. [10]	1 woman	N/A	37	Compound heterozygous [V738Qfs*98; V1110M]	N/A	14	VI/37	ChD/37	Hyperreflexia and hyporreflexia	CA
Synofzik et al. [6]	Family IHG25190 4 siblings: 1 man, 3 women	Yes/Brazilian	56 55 53 48	Homozygous [p.Thr1058Ile]	6–7	N/A	VI/1–3	ChD	Mild CI	CA Pontine atrophy Small pituitary
	Family ARCA-05 2 sisters	No/Italian	44 42	Compound heterozygous [p.Val738Glnfs*98; p.Val1110Met]	6 (sister with intact vision), 27 (other)	N/A	VI in only 1 sister/12	ChD in the woman with visual complaints	Mild CI Spasticity	CA
	Family IHG25353 2 brothers	No/Brazilian	61 57	Compound heterozygous [p.Gly578Trp; p.Phe1066Ser]	6	N/A	N/A	ChD	N/A	CA
	Family IHG25357 1 man	No/Venezuelan	26	Compound heterozygous [p.Ser1045Leu; p.Pro1122Leu]	20	N/A	N/A	ChD	N/A	CA
Kate et al. [7]	Brother and sister	Yes/U	22 (male proband) N/A	N/A N/A	20 18	22 N/A	None N/A	Mottled retinal pigment epithelium N/A	CI T CI	CA ST2WMH CA ST2WMH
Ling et al. [3]	1 man	No/Thai	45	N/A	43	43	VI/39	Retinal pigment epithelium atrophy choriocapillaris and bone spicule-like clumps of pigment deposits	Right foot dystonia Chorea Titubation	CA Putaminal and midbrain atrophy
Yu et al. [29]	1 man	U/Asian	18	N/A	16	18	VI and photophobia/12	Retinal pigment epithelium and choriocapillaris atrophy, with visible choroidal vessels	N	CA
Jbour et al. [25]	3 siblings: 1 man and 2 women	Yes/Arab	21 (male proband) 17 14	N/A	6	20 17 14	Astigmatism N/A	Atrophic PR	CI Bilateral ptosis	CA
Santos et al. [22]	1 man	Yes/U	34	N/A	N/A	N/A	Night blindness	PR		CA ST2WMH
Rizzi et al. [30]	2 brothers	No/U	38 36	N/A N/A	20 24	20 18	VI/6 VI/24	Chorioretinal atrophy with pigmentary changes Bilateral PR with marked choroidal atrophy	N Bilateral pes cavus N T	CA CA Frontal cortical atrophy
Rump et al. [31]	Brother and sister	No/U	31 (male proband) 24	N/A N/A	Slight, since childhood	25 21	Night blindness and constricting visual fields/23 Visual field constriction/21	Retinal pigment epithelium and choriocapillaris atrophy in the mid-peripheral areas peripapillary atrophy and retinal pigment epithelium alterations of the maculae/23 Atrophic retinal pigment epithelium atrophy Narrow retinal vessels Bone spicule-like clumps of pigment deposition/24	Moderate pes cavus Hyporreflexia	CA (vermian)
Salvador et al. [32]	1 woman	N/A	39	N/A	28	17	Progressive VI and photophobia/37	Retinal pigment epithelium and choriocapillaris atrophy in the posterior pole and mid-periphery	T Scanning speech	Diffuse CA
Tojo et al. [5]	2 sisters	Yes/U	52 57	N/A N/A	20 35	28 35	“Visual problems”/46 N/A	ChD/52 ChD/57	T Dysarthria Dysarthria	CA
Erdem et al. [23]	1 man	Yes/U	27	N/A	12	27	VI/12	Peripheral pigmented macular scars and atypical pigmentary patterns Macular pigment epithelium atrophy	N Slow pupillary responses Scanning speech	CA (vermian) Cortical and subcortical atrophy
Baroncini et al. [24]	2 brothers	N/A	33 31	N/A N/A	25 24	20 18	VI/6 N/A	PR/6 Chorioretinal atrophy with macular involvement and pigmentary changes/16 Fine retinal pigmentary changes and coarse macular pigmentation/6 Choroidal atrophy/30	T Bilateral pes cavus Brachycephaly T	Normal CA Mild cerebral atrophy
Fok et al. [33]	Brother and sister	No/Chinese	18 (male proband) 21	N/A N/A	8 6	18 21	High myopia and astigmatism N/A	Peripapillary degeneration with chorioretinal atrophy/18 N/A	N Pendular knee jerks	Diffuse CA Fourth ventricular dilatation
Limber et al. [4]	Family 1 1 woman and 1 man	No/U	32 (female proband) 25	N/A N/A	27 Early childhood (male brother)	15 17	Trouble reading from a blackboard/20 Scotoma N/A	Larger choroidal vessels sclerosis atrophic changes of the retinal pigment epithelium with coarse pigmentation PR/15	N T N Speech delay	Chronic cerebellar degeneration (autopsy finding) Slight prominence of cerebellar folia
	Family 2a 2 sisters and 2 brothers	Yes/mixed Russian– German	53 (Neuhäuser) and 69 (Limber) (female proband) 58 (proband’s brother) Neuhäuser’s	N/A N/A	33–38 12	53 N/A	Scotoma N/A	Early senile macular degeneration/53 Choroidal atrophy around the disc, macular atrophic lesions/69 N/A	CI N Ocular dysmetria T	Normal at age 53 N/A
Boucher et al. [1]	2 sisters	No/U	35 15	N/A N/A	34 U	35 15	VI/4 VI/12	ChD ChD	CI N N Moderate limitation of upgaze Areflexia	N/A N/A

CA cerebellar atrophy, ChD chorioretinal dystrophy, CI cognitive impairment, Dx diagnosis, HH hypogonadotropic hypogonadism, N nystagmus, N/A not available, PR pigmentary retinopathy, ST2WMH subcortical T2-weighted white matter hyperintensities, T tremor, Tx treatment, U unknown, VI visual impairment

^aPreviously reported by Neuhäuser and Opitz in 1975. In Neuhäuser’s paper, all four siblings were reported, but only one male and one female were examined. Information on the other two siblings was retrospective