Publications by authors named "Margus Ennok"

3 Publications

  • Page 1 of 1

Cognitive profile of patients with manganese-methcathinone encephalopathy.

Neurotoxicology 2020 01 31;76:138-143. Epub 2019 Oct 31.

Department of Neurology and Neurosurgery, Institute of Clinical Medicine, University of Tartu, L. Puusepa 8, 50406 Tartu, Estonia; Neurology Clinic, Tartu University Hospital, L. Puusepa 8, 50406 Tartu, Estonia.

Manganese-methcathinone encephalopathy (MME) is a rare parkinsonian syndrome described in drug addicts who have self-injected a home-made mixture containing methcathinone and manganese. We assessed 14 patients with MME and compared their results with 14 matched control subjects. The patients had a parkinsonian syndrome with symmetrical bradykinesia, dystonias, and postural, gait and speech impairment, with moderate restrictions in activities of daily living. Their cognitive status was assessed with the Russian version of the Wechsler Adult Intelligence Scale (WAIS) and with tests of attention (Trail Making Test, Bourdon-Wiersma Dot Cancellation Test), memory (Auditory Verbal Learning Test, Rey-Osterrieth Complex Figure), motor skills (Grooved Pegboard), visuospatial skills (Money Road Map Test, Benton Judgment of Line Orientation), and executive abilities (Verbal Fluency, 5-Point Test, Wisconsin Card Sorting Test). Only a few significant differences emerged. After controlling for multiple comparisons, the results in the WAIS Object Assembly subtest, the Grooved Pegboard test (dominant and nondominant hand) and the Verbal Fluency test remained significant.
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http://dx.doi.org/10.1016/j.neuro.2019.10.007DOI Listing
January 2020

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

Am J Med Genet A 2016 08 2;170(8):2173-6. Epub 2016 Jun 2.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

The CACNA1A gene encodes the transmembrane pore-forming alpha-1A subunit of the Cav 2.1 P/Q-type voltage-gated calcium channel. Several heterozygous mutations within this gene, including nonsense mutations, missense mutations, and expansion of cytosine-adenine-guanine repeats, are known to cause three allelic autosomal dominant conditions-episodic ataxia type 2, familial hemiplegic migraine type 1, and spinocerebellar ataxia type 6. An association with epilepsy and CACNA1A mutations has also been described. However, the link with epileptic encephalopathies has emerged only recently. Here we describe two patients, sister and brother, with compound heterozygous mutations in CACNA1A. Exome sequencing detected biallelic mutations in CACNA1A: A missense mutation c.4315T>A (p.Trp1439Arg) in exon 27, and a seven base pair deletion c.472_478delGCCTTCC (p.Ala158Thrfs*6) in exon 3. Both patients were normal at birth, but developed daily recurrent seizures in early infancy with concomitant extreme muscular hypotonia, hypokinesia, and global developmental delay. The brain MRI images showed progressive cerebral, cerebellar, and optic nerve atrophy. At the age of 5, both patients were blind and bedridden with a profound developmental delay. The elder sister died at that age. Their parents and two siblings were heterozygotes for one of those pathogenic mutations and expressed a milder phenotype. Both of them have intellectual disability and in addition the mother has adult onset cerebellar ataxia with a slowly progressive cerebellar atrophy. Compound heterozygous mutations in the CACNA1A gene presumably cause early onset epileptic encephalopathy, and progressive cerebral, cerebellar and optic nerve atrophy with reduced lifespan. © 2016 Wiley Periodicals, Inc.
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http://dx.doi.org/10.1002/ajmg.a.37678DOI Listing
August 2016

Long-term cognitive outcomes after pediatric stroke.

Pediatr Neurol 2011 Feb;44(2):101-9

Department of Pediatrics, University of Tartu, Tartu, Estonia.

This study assessed neurocognitive and neurologic outcomes of children with neonatal and childhood strokes. Twenty-one children with neonatal (mean age, 6.86 years) and 10 children with childhood (mean age, 8.21 years) strokes, identified via the Estonian Pediatric Stroke Database (1995-2006), participated. A developmental neuropsychologic assessment was used for neurocognitive outcomes, and the Paediatric Stroke Outcome Measure for neurologic outcomes. Neuromotor impairment was evident in 62% of children with neonatal strokes, and in 70% of children with childhood strokes. Compared with control subjects, children with strokes exhibited worse attention, language, memory, and sensorimotor functions. The sensorimotor domain comprised the most impaired neurocognitive area, whereas executive functions remained intact in both stroke groups. A well-preserved executive function may account for the normal range of intelligence in children with strokes. More severe impairment in neurocognitive skills was evident after neonatal strokes, and the visuospatial domain was more impaired than in children from the childhood group. Prognoses were worse after left hemisphere strokes associated with epilepsy. Our results on emerging neurocognitive deficits in several areas underline the importance of neuropsychologic testing and the follow-up of children with pediatric strokes.
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http://dx.doi.org/10.1016/j.pediatrneurol.2010.08.012DOI Listing
February 2011