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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
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172