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
|
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,
|
ADCK3 (CABC1) 1q42.13 |
612 016 |
MSS Marinesco-
|
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-
|
before 5 |
frequent pulmonary and ENT infections, ataxia, oculomotor apraxia, telangiectasias, dystonia, predisposition to cancer |
ATM 11q22.3 |
208 900 |
ARSACS Charlevoix-
|
before 12 |
paraparesis, spastic ataxia,
|
BAGS 13q11 |
270 550 |
OISCA Ohaha syndrome |
early childhood |
ataxia, ophthalmoplegia,
|
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