Novel mutation of <i>SACS</i> gene in a Spanish family with autosomal recessive spastic ataxia

Criscuolo, Chiara; Saccà, Francesco; Michele, Giuseppe De; Mancini, P; Combarros, Onofre; Infante, Jon; García, Antonio García y; Banfi, Sandro; Filla, Alessandro; Berciano, José

doi:10.1002/mds.20579

Cited by 51 publications

(30 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…7 As originally reported by Bouchard et al, 4 we found that MCV was moderately reduced, thus differing from the preserved MCV observed in Friedreich's ataxia (FA). 17 EMG showed signs of chronic neurogenic atrophy.…”

Section: Discussionmentioning

confidence: 42%

See 1 more Smart Citation

Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix‐Saguenay

García¹,

Criscuolo²,

Michele³

et al. 2007

Muscle and Nerve

Self Cite

View full text Add to dashboard Cite

In order to characterize the electrodiagnostic features of autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) more fully, we report the clinical and neurophysiological findings in two patients from a Spanish pedigree with a homozygous missense point mutation in the SACS gene. Nerve conduction studies showed signs of both axonal and demyelinating neuropathy. In the upper-limb nerves, motor conduction velocity was intermediately slowed. Sensory nerve action potentials were attenuated or absent. In addition, slowed conduction in the central motor, somatosensory, and auditory brainstem pathways was observed, and masseter and blink reflexes were abnormal. As a whole, this constellation of electrophysiological findings helps in the diagnosis of ARSACS. Autosomal-recessive spastic ataxia of CharlevoixSaguenay (ARSACS) is a form of early-onset spastic ataxia that includes spasticity, cerebellar signs, and peripheral neuropathy due to mutation in the SACS gene. 3,11 Electrophysiological investigations of the disease are scanty and have revealed reduced motor conduction velocity (MCV), abolition of sensory nerve action potentials (SNAPs), and abnormal multimodality evoked potentials. 2 To better define electrodiagnostic features of this disorder, we report a detailed electrophysiological study in two ARSACS patients. CASE REPORTSClinical Findings. The two patients, a brother (patient 1) age 39 years, and sister (patient 2) age 28 years, were born from a healthy consanguineous pedigree. Both patients showed a similar clinical picture characterized by progressive gait imbalance since infancy. Examination of the cranial nerves revealed horizontal gaze-evoked nystagmus and saccadic pursuit with preservation of saccadic eye movements. Neither hypermyelinated retinal fibers nor ocular telangiectasias were found. There was a scanning dysarthria. In the limbs there was atrophy of foot and hand musculature (Fig. 1). Gait was ataxicspastic, but still possible without support. Mild distal weakness and hypopallesthesia in the lower limbs were noted. There was upper-limb and lower-limb ataxia. Tendon reflexes in the lower limbs were brisk, with ankle clonus and extensor plantar responses; upper-limb tendon reflexes were preserved and the jaw jerk was absent.As reported elsewhere and with informed consent, a homozygous missense mutation (7848CϾT) in the SACS gene was identified in both patients. 7 Routine laboratory investigations were normal and magnetic resonance imaging showed cerebellar and spinal cord atrophy in both patients.Neurophysiological Findings. Electromyography (EMG) of tibialis anterior muscle revealed a moderately reAbbreviations: ARSACS, autosomal-recessive spastic ataxia of Charlevoix-

show abstract

Section: Discussionmentioning

confidence: 42%

“…7 Routine laboratory investigations were normal and magnetic resonance imaging showed cerebellar and spinal cord atrophy in both patients. The results of nerve conduction studies are summarized in Table 1.…”

Section: Case Reportsmentioning

confidence: 95%

Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix‐Saguenay

García¹,

Criscuolo²,

Michele³

et al. 2007

Muscle and Nerve

Self Cite

View full text Add to dashboard Cite

show abstract

“…Similarly, our patients had no retinal alterations. Criscuolo et al reported a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype was similar to the earliest presentations associated with ARSACS, thus emphasizing the widespread occurrence of ARSACS-causing mutations around the world, with the highest incidence in the Mediterranean region 12 .…”

Section: Cases Descriptionmentioning

confidence: 93%

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family

Pedroso

Braga‐Neto

Abrahão

et al. 2011

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Several ARSACS cases have been reported outside Canada in recent decades. This is the first report of typical clinical and neuroimaging features in a Brazilian family with probable diagnosis of ARSACS.

show abstract

“…Initially, ARSACS was described among French Canadians in the Charlevoix -Saguenay region of Quebec. After the identification of the SACS gene on proximal chromosome 13q as the causative gene, 1 mutations in this gene were detected in patients from other populations, notably Tunisia, 2 Turkey, 3 Italy, 4,5 Spain, 6 Japan 7 -10 and Belgium. 11 Up to now, approximately 30 different loss-of-function mutations have been reported in the SACS gene.…”

Section: Introductionmentioning

confidence: 99%

A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay

Breckpot¹,

Takiyama

Thienpont³

et al. 2008

Eur J Hum Genet

View full text Add to dashboard Cite

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

Cited by 51 publications

References 11 publications

Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix‐Saguenay

Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix‐Saguenay

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family

A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay

Contact Info

Product

Resources

About