STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

Heimdal, Ketil; Sanchez-Guixé, Monica; Aukrust, Ingvild; Bollerslev, Jens; Bruland, Ove; Jablonski, Greg Eigner; Erichsen, Anne Kjersti; Gude, Einar; Koht, Jeanette A; Erdal, Sigrid; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Boman, Helge; Bjørkhaug, Lise; Tallaksen, Chantal ME; Knappskog, Per M; Johansson, Stefan

doi:10.1186/s13023-014-0146-0

Orphanet Journal of Rare Diseases

Table 1 Clinical and radiological features of the four patients at examination date

From: STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

Family-ID, Sex, Age at examination	P1[II-1], male, 26	P1[II-2], male, 30	P1[II-3], female, 20	P2, female, 45
Substitution	N65S/N65S	N65S/N65S	N65S/N65S	E28K/K144*
Age of onset	2 years	CP diagnosis at birth	8 months	33 years
Onset symptom	Delayed development	na	Delayed development	Oligomennorhea, secondary infertility
Dysmorphic features at examination	Aged appearance	Aged appearance	Aged appearance	None
	Long slender fingers, increased space between digits four and five, adducted thumbs	Adducted thumbs	Minor unspecific facial dysmorphism
		Adducted thumbs	Long slender fingers, increased space between digits four and five
First neurological symptom (age in years)	Gait impairment (17)	Gait impairment, dysarthria (12)	Gait impairment (15)	Gait ataxia, dysarthria (32)
Neurological signs & symptoms	Myokimies	Head tremor and generalized intermittent postural tremor	Dyspraxia	Cerebellar ataxia, Dysarthria, mild dysphagia
			Decreased tempo
			Cerebellar ataxia, mild dysarthria
	Cerebellar ataxia (17), dysarthria		Cerebellar ataxia, mild dysarthria
			Cognitive impairment
			Epilepsy until 2 years of age
		Cerebellar ataxia, dysarthria, dysphagia
		Cerebellar ataxia, dysarthria, dysphagia		Decreased tempo
		Increased muscle tone (rigidity and gegenhalten)
	Dyspraxia	Increased muscle tone (rigidity and gegenhalten)
		Distal muscle atrophy
		Cognitive impairment
	Increased muscle tone (rigidity)
	Cognitive impairment
Disability score*	5	5 (from 22 years)	2	4
MR findings (at examination)	Cerebellar hypoplasia, thin posterior corpus callosum, mild thinning of pons	Severe cerebellar atrophy, thin corpus callosum, thin pons	Cerebellar hypoplasia, thin pons and corpus callosum	Cerebellar hypoplasia, mild thinning of pons, “empty sella”
Ophthalmological findings	Horizontal nystagmus	Left sided chronic iridocyclitis with secundary glaucoma; Oculomotor dyspraxia with saccadic pursuit	Horizontal nystagmus; mild retinal atrophy	Results not available
Endocrinology	Increased anti TPO		Delayed menarche for family	Secondary infertility Hypothyroidism
	Diabetes type I			Secondary infertility Hypothyroidism
	Diabetes type I			Diabetes type 2
Other	Alopecia	Ulcerative colitis	Slight presbyacusis	Pancreatitis
Other	Slight presbyacusis	Ulcerative colitis	Slight presbyacusis	Pancreatitis

*Disability score → 0: no functional handicap; 1: no functional handicap but signs at examination; 2: mild, able to run, walking unlimited; 3: moderate, unable to run, limited walking without aid; 4: severe, walking with one stick; 5: walking with two sticks; 6: unable to walk, requiring wheelchair; 7: confined to bed.

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ISSN: 1750-1172

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