Spinocerebellar ataxias

Heterogeneous groups of neurodegenerative diseases of slow and gradual evolution.

Their causes are many and there are classified according to their mode of transmission:


- Ataxias with autosomal dominant transmission

       Prevalence: approximately 5/100,000. They are due to excessive repetition of non-coding trinucleotides, toxicity of the accumulated polyglutamates or abnormalities of the calcium or potassium channels.



name

the most common

age of onset

(years)


symptoms


gene


MIM

SCA1

Olivopontocerebellar atrophy

30

equilibrium disorders while walking, difficulty of coordination of the hands, dysphagia, spasticity

ATXN1

6p23


164 400

SCA2

30

slow eye movements, muscle cramps, tremor, dysarthia, dysphagia, spasticity

ATXN2

12q24.1

183 090

SCA3

Machado-Joseph

30

diplopia, dysphagia, dysarthria, hyperreflexia, nystagmus, spastic paraplegia

ATXN3

14q 21

109 150

SCA6

40

dysarthria, nystagmus,

loss of equilibrium, neuropathy

CACNA1A

19p13.13

183 086

SCA7

Ataxia with
pigmentary retinopathy

childhood to 50

decrease of visual acuity, slow eye movements , dysarthria, dysphagia

ATXN7

3p14.1

164 500

autosomal dominant cerebellar ataxias (ADCA)


- Ataxias with autosomal recessive transmission

Prevalence around 6/100.000.

There are 3 groups according to their clinical presentation:

ˇ        pure cerebellar syndrome: ARCA2 and MSS

ˇ        spinocerebellar  and posterior cord syndrome with sensory polyneuropathy: Friedreich  ataxia and MSS

ˇ        cerebellar syndrome and sensitivomotor polyneuropathy: AT and ARSACS


Some are mitochondrial pathologies: ARCA2, IOSCA, SANDO


name

age of onset

(years)

symptoms

gene

MIM

ARCA2

1-11

hypotonia, falls, ataxia, epilepsy or stroke-like syndrome,
high blood lactate level

ADCK3

(CABC1)

1q42.13


612 016

MSS

Marinesco-
Sjogren syndrome

birth

hypotonia, ataxia, bilateral cataracts, growth and psychomotor delay, hypogonadism


SIL1

5q31.2


248 800

ADRF

Ataxia

2-60

ataxia, areflexia, dysarthria, dysphagia, scoliosis, hypertrophic cardiomyopathy, diabetes mellitus

FXN

9q

229 300

601 992

SANDO

30-60

ophthalmoplegia, dysarthria, dysphagia, migraine headaches, epilepsy, myopathy

POLG

15q26.1

607 459

AT

Ataxia-
telangiectasia


before 5

frequent pulmonary and ENT infections, ataxia, oculomotor apraxia, telangiectasias, dystonia, predisposition to cancer


ATM

11q22.3


208 900

ARSACS

Charlevoix-
Saguenay spastic ataxia


before 12


paraparesis, spastic ataxia,
eye involvement


BAGS

13q11


270 550

OISCA

Ohaha syndrome

early childhood

ataxia, ophthalmoplegia,
epilepsy, deafness

C10orf2

10q24

271 245

autosomal recessive cerebellar ataxias (ARCA)


Anesthetic implications:

dysphagia (risk of inhalation in the recovery period ?); difficulty with monitoring of the reversal of curarization in case of neuropathy; special care in case of neuraxial block


References :

-        Anheim M.
Les ataxies cérébelleuses autosomiques récessives.
Revue Neurol  2011 ; 167 : 372-84.

-        Saraswat A, Gunasekaran S, Choksi N.
Safe use of epidural analgesia in a parturient with spinocerebellar ataxia: a case report.
A&A Practice 2018; 11: 121-3


Updated: September 2018