Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient
Yazarlar (7)
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Prof. Dr. Dürdane AKSOY
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Prof. Dr. Betül ÇEVİK
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Boğaziçi Üniversitesi, Türkiye
| Makale Türü | Diğer (Teknik, not, yorum, vaka takdimi, editöre mektup, özet, kitap krıtiği, araştırma notu, bilirkişi raporu ve benzeri) |
| Makale Alt Türü | SCI, SSCI, AHCI, SCI-Exp dergilerinde yayınlanan teknik not, editöre mektup, tartışma, vaka takdimi ve özet türünden makale |
| Dergi Adı | EUROPEAN JOURNAL OF NEUROLOGY |
| Dergi ISSN | 1351-5101 Wos Dergi Scopus Dergi |
| Dergi Tarandığı Indeksler | SCI |
| Dergi Grubu | Q4 |
| Makale Dili | İngilizce |
| Basım Tarihi | 05-2014 |
| Cilt No | 21 |
| Sayı | 1 |
| Sayfalar | 691 / 691 |
| DOI Numarası | 10.1016/j.jns.2015.06.050 |
| Makale Linki | http://linkinghub.elsevier.com/retrieve/pii/S0022510X15003913 |
| Özet |
| Methods: A 47-year-old woman with short stature presented with gait disturbance and paresthesia. She was complaining of gradually increasing ataxia since her early childhood. Neurologically, her speech was cerebellar dysarthric, she had symmetrical weakness, lower limbs were spastic, she had tenar, hypotenar, interosseal, tibialis anterior and intrinsic foot muscle atrophy. Hypoesthesia was detected in feet and hands. Deep tendon reflexes were decreased, plantar responses extensor. Patient had pronounced ataxic gait. Similar complaints were present in her two sisters.Results: MRI revealed cerebellar atrophy, radiographically there were prominent end plate irregularities and sclerosis of the vertebral bodies, spondylosis and kyphosis. Nerve conduction study was consistent with demyelinating sensory-motor neuropathy. GAA expansion in the frataxin gene was negative. Patient was subjected to exomic … |
| Anahtar Kelimeler |
| Autosomal recessive spastic ataxia of Charlevoix Saguenay, ARSACS | Ataxia | Spasticity | Novel mutation | Spondyloepiphyseal dysplasia, SED |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| WoS | 4 |
| Google Scholar | 5 |