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Table 2 Clinical, MRI and lab findings of STUB1 mutation carriers

From: Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

Subject STUB1 mutation Gender Age at investigation [years] Age at onset ataxia [years] Tendon reflexes Spasticity Babinski reflex Ankle clonus Urge incontince Hypogonadism Cognitive impairment
18161 p.Leu123Val M 16 2 Normal - - - + - -
91078 p.Met240Thr F 21 16 Normal - - - + - -
25130_01 p.Ala79Thr; Ala79Asp M 46 29 Increased Lower limb, mild - + bilateral - - -
25130_10 .p.Ala79Thr; Ala79Asp M 50 49 Increased Lower limb. moderate - + bilateral + - -
Subject SDFS SARA SPRS Nerve conduction studies Motor evoked potentials MRI Hormones Testicular volume (sonography)
Sensory Motor
18161 3 10 n.a. Sural nerve: normal Tibial nerve: normal Prolonged CMCT to LE (18 ms) Atrophy cerebellum and parietal cortex Testosteron normal (236 ng/dl) 25 ml, each side
Estradiol normal (8,4 pg/ml
LH normal (3,6 IU/l)
FSH normal (0,7 IU/l)
91078 4 12 n.a. Sural nerve: no SNAP Tibial nerve: normal Prolonged CMCT to UE (10 ms), not evoked to LE Atrophy cerebellum Estradiol normal (50 pg/ml) n.a.
LH normal (8.3 mE/ml)
FSH normal (3.7 mE/ml)
25130_01 6 n.d. 38 n.d. n.d. Normal Atrophy cerebellum Testosteron (4.3 ng/ml) n.d.
Estradiol normal (22 pg/ml9
LH normal (9.6 mU/l)
FSH normal (16.0 mU/ml)
25130_10 3 14.5 5 n.d. n.d. Normal Atrophy cerebellum n.d. n.d.
  1. Legend: m, male; f, female; n.a., not applicable, n.d., not done; SARA, scale for the Assessment and Rating of Ataxia, reaching from 0 to 40, with higher scores indicating more severe ataxia [9]; scores < 3 points are considered unspecific. SPRS, spastic paraplegia rating scale, reaching from 0 to 52, with higher scores indicating more severe spastic paraplegia [10] (please note, however, that several items of the SPRS scale increase also with more severe ataxia); CMCT: Central motor conduction time. Reference values CMCT lower extremity (LE) < 16.0 ms; CMCT upper extremity (UE) < 9 ms. LE, lower extremity; UE, upper extremity; LH, luteinizing hormone; FSH, follicle-stimulating hormone; SNAP, sensory nerve action potential; MRI, magnetic resonance imaging. 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).