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- Lindberg, Christopher, et al.
(författare)
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MELAS syndrome in a patient with a point mutation in MTTS1.
- 2008
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Ingår i: Acta neurologica Scandinavica. - : Hindawi Limited. - 1600-0404 .- 0001-6314. ; 117:2, s. 128-32
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND, OBJECTIVE AND METHODS: We describe a female patient with a mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome. As a child, she developed epilepsy and stroke-like episodes giving cognitive impairment and ataxia but no hearing impairment. At the age of 44 years, she suffered a cerebral sinus thrombosis which was warfarin treated. One month later, she developed an episode of severe acidosis associated with encephalopathy and myelopathy. RESULTS: She was found to harbour a 7512T>C mutation in the mitochondrial encoded tRNA(Ser(UCN)) gene (MTTS1). The mutation load was 91% in muscle and 24% in blood. Enzyme histochemical analysis of the muscle tissue showed numerous cytochrome c oxidase (COX)-negative fibres. Restriction fragment length polymorphism (RFLP) analysis of single muscle fibres showed significantly higher level (median 97%, range: 94-99%) of the mutation in the COX-negative fibres compared with COX-positive fibres (median 36%, range: 12-91%), demonstrating the pathogenic effect of the mutation. Different levels of heteroplasmy (range 34-61%) were detected in hair shafts analysed by RFLP. CONCLUSION: This case adds to the spectrum of clinical presentations, i.e. sinus thrombosis, in patients having MTTS1 mutations.
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| 2. |
- Kleberg, Johan L., et al.
(författare)
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Facial memory deficits in myotonic dystrophy type 1.
- 2014
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Ingår i: Acta Neurologica Scandinavica. - : Hindawi Limited. - 0001-6314 .- 1600-0404. ; 130:5, s. 312-318
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To evaluate facial memory ability (FMA) in patients with myotonic dystrophy type 1 (DM1). We also explored the relationship between FMA and neuropsychological data, disease-related factors, and CTG repeat expansion size. MATERIALS AND METHODS: Patients with DM1 (n = 33) and healthy subjects (n = 30) were tested with the faces task of the Rivermead Behavioural Memory Test - Extended version (RBMT-E) and an additional set of neuropsychological tests. Clinical data were collected, and CTG repeat size was quantified in blood lymphocytes. RESULTS: Low results on the faces task were more common in patients with DM1 compared with healthy subjects (P < 0.05), with 36% of the patients showing a poor/impaired performance. DM1 patients with deficits in FMA performed significantly worse on tests measuring visual-construction ability and memory. Furthermore, these patients more often falsely recognised unknown faces as known. Deficits in FMA were not associated with any disease-related factor, including CTG repeat expansion size. CONCLUSIONS: These findings revealed deficits in FMA in the DM1 group, which was associated with reduced construction- and visual memory ability.
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| 3. |
- Lindberg, Christopher, et al.
(författare)
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Episodes of exercise-induced dark urine and myalgia in LGMD 2I.
- 2012
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Ingår i: Acta neurologica Scandinavica. - 1600-0404. ; 125:4, s. 285-7
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Tidskriftsartikel (refereegranskat)abstract
- Mutations in the fukutin-related protein gene FKRP (MIM *606596) cause a form of congenital muscular dystrophy (MDC1C) and also limb girdle muscular dystrophy type 2I (LGMD2I). Exercise-induced myoglobinuria, frequently occurring in metabolic myopathies, has been described in Becker muscular dystrophy and in a few cases of LGMD.
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| 4. |
- Lindberg, Christopher, et al.
(författare)
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Prognosis and prognostic factors in sporadic inclusion body myositis.
- 2012
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Ingår i: Acta neurologica Scandinavica. - 1600-0404. ; 125:5, s. 353-8
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To describe the course of change in muscle strength sporadic inclusion body myositis (IBM) patients. MATERIAL AND METHODS: We have studied a cohort of 66 IBM pateints using a hand-held dynamometer. RESULTS: Follow-up during a mean of 61.1 months showed a deterioration of on average -0.79% per month. The 'natural course' without immunosuppressive treatment (IS), analyzed in 43 patients (mean 46.4 months) was mean -1.03% per month. Loss of muscle power was most rapid in knee extension -1.12% (P < 0.001 when compared with elbow flexion, elbow extension and hip flexion). There was a tendency towards a more rapid decline in males than females and over the first 5 years after onset, while the level of serum creatine kinase (CK), age, or region affected at onset did not predict the prognosis. The mean change during periods with any IS treatment was -0.76% per month which was significantly lower compared to the total of untreated periods -1.03% (P < 0.05). Patients (n = 13) treated with mykofenolatmofetil showed a better prognosis of -0.67% per month (P < 0.05). In this group elbow flexion and extension and hip flexion showed a positive response, while knee extension was seemingly unaffected. CONCLUSIONS: There is a mean of 1% loss in power per month in the untreated IBM patient - the rate of loss was greater in the quadriceps muscle and in untreated compared with IS-treated patients.
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| 5. |
- Lindberg, Christopher, et al.
(författare)
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Search for Pompe disease among patients with undetermined myopathies
- 2016
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Ingår i: Acta Neurologica Scandinavica. - : Hindawi Limited. - 0001-6314 .- 1600-0404. ; 133:2, s. 131-135
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Tidskriftsartikel (refereegranskat)abstract
- Objective - Pompe disease is a rare treatable glycogen storage disease with in adults - a limb-girdle muscle weakness. Muscle biopsy may fail to show the typical vacuolar myopathy. We asked if we had undiagnosed patients with Pompe disease in western Sweden. Material and Methods - We searched the muscle biopsy registry during the time period 1986 until 2006 including 3665 biopsies and included patients at our Neuromuscular Center with unspecified myopathy or limb-girdle muscular dystrophy. The dry blood spot test was used to identify patients with Pompe disease. Results - A total of 82 patients (46 from the biopsy register and 36 from our center) were seen and dry blood spot test was obtained. No patient with Pompe disease was found. The dry blood spot test was low in three cases (11, 16, and 18% of normal) but a second blood sample showed a normal result based on GAA enzyme activity in lymphocytes in all three patients. In one patient with low normal result of the analysis in lymphocytes a genetic test showed no pathogenic mutations. Further investigation gave a definite diagnose of another myopathy in 12 patients. Conclusions - The prevalence of Pompe disease in western Sweden (3 in 1.27 million or 0.24 per 100.000 inhabitants) is lower than in the Netherlands and New York. Re-evaluation of patients with myopathies but without definite diagnosis is rewarding since 12 of 82 patients in our study had a definite molecular diagnosis after workup.
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