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Table 2 Summary of clinical, imaging, and laboratory data of the STUB1 patients

From: STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Family 1 2 2
Subject II.1 II.1 II.4
STUB1 mutation c.355C > T p.Arg119* + c.880A > T p.Il294Phe c. 433A > C p.Lys145Gln + c.728C > T p.Pro243Leu c.433A > C p.Lys145Gln + c.728C > T p.Pro243Leu
Gender M M F
Age at last investigation 34y 35y (patient died aged 40) 45y
First symptom, age of onset epilepsy, 2y ataxia, age 12y cataract surgery left eye, 11y
Ataxia, age of onset 12y 12y 20y
Tendon reflexes increased in UE/LE increased in UE/LE increased in UE/LE
Spacticity +++ in UE and LE + in UE and LE + in UE and LE
Babinski’s sign + bilateral + bilateral + bilateral
Ankle clonus - + bilateral + bilateral
Urge incontinence + + + (40y)
Parkinsonism hypomimia - -
Hyperkinetic movements (dystonia/athetosis) focal dystonia upper limb intermittend ballistic athetotic movements intermittend ballistic athetotic movements
Epilepsy GTCS in early childhood GTCS (onset 35y) GTCS? (onset 42y)
Muscle atrophy distal UE/LE, possibly secondary to disuse generalized UE/LE atrophy secondary to disuse distal UE/LE, possibly secondary to disuse
Sense of vibration cannot be tested reliability due to dementia cannot be tested reliability due to dementia cannot be tested reliability due to dementia
Cognitive impainment severe severe, mutism, PEG at 36y severe, mutism, PEG at 43y
Neuropsychology not testable anymore due to too severe cognitive deficits not testable anymore; TIQ 85 (WAIS) at 32y not testable anymore; MMSE 29/30 at 24y, work as secretary in early 20ies
SDFS 6 6 6
SARA 36 40 40
SPRS 36 34 40
Nerve conduction studies sural and tibial nerve normal sural and tibial nerve normal sural and tibial nerve normal
Motor evoked potentials n/a normal normal (SSEP’s and BAEP also normal)
Cerebral imaging cerebellar, mesencephalic and parieto-occipital cortical atrophy cerebellar atrophy severe cerebellar atrophy, vermis and hemispheric, brainstem normal (33y)
Hypogonadism + secondary sex characteristics present secondary sex characteristics present
Hormones Testosteron 5,2 nmol/I; LH 0,8 IU/I; FSH 0,8 IU/I normal (36y) n/a
Testicular volume (sonography) right testicle: 4.2 ml left testicle: 3.9 ml n/a not applicable
  1. Legend: M male, F female, y years, n/a not applicable, UE upper extremity, LE lower extremity, GTCS generalized tonic-clonic seizure, TIQ total intelligence quotient, WAIS Wechsler Adult Intelligence Scale, MMSE Mini Mental State Examination, SDFS Spinocerebellar Degeneration Functional Score. This score was used to evaluate the disability stage from 1 to 7 (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 help; 4: severe, walking with one stick; 5: walking with two sticks; 6: unable to walk, requiring wheelchair; 7: confined to the bed). SARA, Scale for the Assessment and Rating of Ataxia, reaching from 0 to 40, with higher scores indicating more severe ataxia [17]; scores <3 points are considered unspecific. SPRS, Spastic Paraplegia Rating Scale, reaching from 0 to 52, with higher scores indicating more severe spastic paraplegia [18] (please note, however, that several items of the SPRS scale increase also with more severe ataxia); SSEP, somatosensory evoked potential; BAEP, brainstem auditory evoked potentials; LH, luteinizing hormone; FSH, follicle-stimulating hormone