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  • Ali, Zafar, et al. (författare)
  • Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities
  • 2016
  • Ingår i: Journal of the Neurological Sciences. - 0022-510X .- 1878-5883. ; 371, s. 105-111
  • Tidskriftsartikel (refereegranskat)abstract
    • We describe eight subjects from two consanguineous families segregating with autosomal recessive childhood onset spastic ataxia, peripheral neuropathy and intellectual disability. The degree of intellectual disability varied from mild to severe and all four affected individuals in one family developed aggressive behavior and epilepsy. Using exome sequencing, we identified two novel truncating mutations (c.2656C>T (p.Gln886*)) and (c.4756_4760delAATCA (p.Asn1586Tyrfs*3)) in the SACS gene responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). MRI revealed typical cerebellar and pontine changes associated with ARSACS as well as multiple supratentorial changes in both families as likely contributing factors to the cognitive symptoms. Intellectual disability and behavioral abnormalities have been reported in some cases of ARSACS but are not a part of the characteristic triad of symptoms that includes cerebellar ataxia, spasticity and peripheral neuropathy. Our combined findings bring further knowledge to the phenotypic spectrum, neurodegenerative changes and genetic variability associated with the SACS gene of clinical and diagnostic importance.
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  • Ansved, Tor, et al. (författare)
  • Enzyme-histochemical and morphological characteristics of fast- and slow-twitch skeletal muscle after brain infarction in the rat
  • 1996
  • Ingår i: Journal of the Neurological Sciences. - : Elsevier. - 1878-5883. ; 144:1-2, s. 14-20
  • Tidskriftsartikel (refereegranskat)abstract
    • The right middle cerebral artery was permanently occluded in 12-week-old male spontaneously hypertensive rats. After the surgery the rats were subjected to repeated behavioural tests during the observation period. Fourteen weeks after surgery the fast-twitch extensor digitorum longus (EDL) and the slow-twitch soleus muscle of both sides were removed and examined with regard to muscle fibre characteristics obtained by histochemical and morphometrical methods. Comparisons were made with age-matched controls. Limb placement and the ability to traverse a beam or a rotating pole were repeatedly tested 2-13 weeks after the operation. In spite of permanent sensorimotor deficits in limb placement and when traversing a rotating pole or beam, no increase in pathological changes was noted in either EDL or soleus. The number and proportion of fibre types remained unchanged in both muscles. There was no difference in muscle fibre size in either EDL or soleus. It is concluded that brain infarction in the rat, although causing marked impairment of contralateral motor function, does not have a major influence on the muscle-fibre morphology or fibre-type composition, irrespective of muscle type.
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