Skip to main content

Table 1 Clinical and neuroimaging findings in patients with Salih ataxia (autosomal recessive spinocerebellar ataxia-15, SCAR15) due to founder mutation in RUBCN gene

From: Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)

 

This report

Assoum et al [1]

Gender ((Pedigree No.)

Patient 1

M

Patient 2

M

Patient 1

F

Patient 2

F

Patient 3

F

Age at assessment

6.5 y

17 y

16 y

19 y

16 y

Initial symptoms

Unsteadiness (at 2.5 y)

Unsteadiness (at 3 y)

Epilepsy (at 7 mo)

Unsteadiness (at 7 y)

Epilepsy (at 7 mo)

Delayed motor development

Yes, walked at 2.5 y

Yes, walked at 3 y

Yes, walked at 42 mo

Yes, walked at 22 mo

Yes, walked at 28 mo

Delayed speech acquisition

Yes, talked at age 5y

Yes, talked at age 4 y

Yes, talked at age > 4 y

Yes, talked at age 3 y

Yes, talked at age 4 y

Cognitive deficit

Yes (IQ = 67)

Yes, attending special school (1Q = 72)

Yes, moderate intellectual disability

None

Yes, moderate intellectual disability

Onset of dysarthria

Since talking

Since talking

Since talking

Since talking

Since talking

Abnormal eye movements

None

Saccadic pursuit

Nystagmus

Saccadic pursuit

Saccadic pursuit

Cerebellar ataxia:

 Upper limbs

None

Mild

Mild

Mild

Severe

 Lower limbs

None

Mild

Moderate

Moderate

Severe

 Gait

None

Mild

Moderate

Moderate

Severe

 Dysarthria

Mild

Mild

Moderate

Moderate

Severe

Disability stagea

0

1

3

3

3

Deep tendon reflexes:

 Upper limbs

Normal

Normal

Diminished

Diminished

Diminished

 Lower limbs

Normal

Enhanced

Diminished

Enhanced

Enhanced

Plantar reflex

Flexor

Flexor

Flexor

Flexor

Flexor

BAER (Age when done)

Normal (6.5 y)

Increased hearing threshold in L (40 dB) and R (60 dB) ears (17 y)

Normal in L ear. Increased hearing threshold in R ear [40 dB] (14 y)

Not done

Increased hearing threshold in L (60 dB) and R (40 dB) ears (16 y)

VEP (Age when done)

Normal (6.5 y)

Normal (17 y)

Normal (14 y)

Not done

Bilateral optic pathway involvement [P100 latency = 135.5 msec in L eye and 137 msec in R eye] (16 y)

Motor and sensory NCS (Age when done)

Normal (6.5 y)

Normal (17 y)

Normal (24 y)

Normal (19 y)

Normal (16 y)

MRI brain (Age when done)

Normal (2.5 y)

Normal (6 y), minimal superior vermian atrophy (16y)

Normal (16 y)

Normal (9 y), mild cerebellar atrophy and prominent folia (18 y)

Normal (8 y)

  1. Abbreviations: BAER Brain auditory evoked responses, F Female, IQ Intelligence quotient, L Left, M Male, mo months, MRI Magnetic resonance imaging, NCS Nerve conduction study, R Right, VEP Visual evoked potentials, y years
  2. aDisability Stage: 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