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. 2014 Sep 26;9:146. doi: 10.1186/s13023-014-0146-0

Table 1.

Clinical and radiological features of the four patients at examination date

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
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
Cognitive impairment
Epilepsy until 2 years of age
Cerebellar ataxia, dysarthria, dysphagia
Decreased tempo
Increased muscle tone (rigidity and gegenhalten)
Dyspraxia
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
Diabetes type 2
Other Alopecia Ulcerative colitis Slight presbyacusis Pancreatitis
Slight presbyacusis

*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.