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Article ; Online: Cutaneous nerve biopsy in patients with symptoms of small fiber neuropathy: a retrospective study.

Løseth, Sissel / Nebuchennykh, Maria / Brokstad, Ruth Therese / Lindal, Sigurd / Mellgren, Svein Ivar

2024 Volume 24, Issue 1

Abstract: Objectives: We aimed to investigate to what extent small fiber tests were abnormal in an unselected retrospective patient material with symptoms suggesting that small fiber neuropathy (SFN) could be present, and to evaluate possible gender differences.!# ...

Abstract	Objectives: We aimed to investigate to what extent small fiber tests were abnormal in an unselected retrospective patient material with symptoms suggesting that small fiber neuropathy (SFN) could be present, and to evaluate possible gender differences. Methods: Nerve conduction studies (NCS), skin biopsy for determination of intraepidermal nerve fiber density (IENFD) and quantitative sensory testing (QST) were performed. Results: Two hundred and three patients, 148 females and 55 males had normal NCS and were considered to have possible SFN. 45.3 % had reduced IENFD, 43.2 % of the females and 50.9 % of the males. Mean IENFD was 7.3 ± 2.6 fibers/mm in females and 6.1 ± 2.3 in males (p<0.001), but the difference was not significant when adopting Conclusions: Less than half of these patients had reduced IENFD, and 50 % had abnormal QST. There were no gender differences. A more strict selection of patients might have increased the sensitivity, but functional changes in unmyelinated nerve fibers are also known to occur with normal IENFD. Approval to collect data was given by the Norwegian data protection authority at University Hospital of North Norway (Project no. 02028).
MeSH term(s)	Male ; Female ; Humans ; Retrospective Studies ; Small Fiber Neuropathy/diagnosis ; Small Fiber Neuropathy/pathology ; Nerve Fibers/pathology ; Nerve Fibers/physiology ; Skin/innervation ; Biopsy
Language	English
Publishing date	2024-02-22
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2515451-5
ISSN	1877-8879 ; 1877-8860
ISSN (online)	1877-8879
ISSN	1877-8860
DOI	10.1515/sjpain-2023-0071
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Article ; Online: Nerve biopsy--some comments on procedures and indications.

Mellgren, S I / Lindal, S

Acta neurologica Scandinavica. Supplementum

2011 , Issue 191, Page(s) 64–70

Abstract: Nerve biopsy is most often a final step in the evaluation of patients with peripheral neuropathy. The procedure should always be expected to result in varying degree of sensory loss within the innervation area of the biopsied nerve and chronic pain in ... ...

Abstract	Nerve biopsy is most often a final step in the evaluation of patients with peripheral neuropathy. The procedure should always be expected to result in varying degree of sensory loss within the innervation area of the biopsied nerve and chronic pain in the area may also occur. Therefore appropriate informed consent must be obtained and a weighing of such side effects and benefits for the patient, particularly therapeutical consequences, should be seriously considered before the procedure is performed. The surgical procedure and the processing in the laboratory of the nerve material must hold a high standard at all levels. Nerve biopsy should not be performed before adequate clinical, electrophysiological and laboratory investigations have been performed. The choice of nerve is important, but in most instances the sural nerve is biopsied, although the superficial peroneal nerve is also an option and allows an easy access to muscle biopsy in the same procedure. Laboratories performing nerve biopsies should have the facilities and expertise to prepare and evaluate fixed and frozen sections (paraffin, cryostat and epoxy-sections) and teased fibers, and also to perform light and electron microscopy and immunohistochemistry. Although not routinely used, the option of morphometry should be available as well. We recommend that properly trained technicians start the processing procedures in the operating room and, if feasible, even in hospitals outside that of the hospital with nerve laboratory. We also prefer routine use of teased fiber analysis as this visualizes in an excellent way pathological processes like axonal degeneration, demyelination and remyelination as well as other features. Evaluation of small fiber neuropathy is rarely an indication for nerve biopsy and should be investigated with skin biopsy and visualization and quantification of intraepidermal nerve fibers. Investigation of inflammatory neuropathy, particularly to demonstrate nerve vasculitis, is the main indication of nerve biopsy.
MeSH term(s)	Biopsy/methods ; Demyelinating Diseases/pathology ; Humans ; Nerve Fibers/pathology ; Peripheral Nerves/pathology ; Peripheral Nervous System Diseases/pathology
Language	English
Publishing date	2011
Publishing country	Denmark
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ISSN	1600-5449
ISSN (online)	1600-5449
DOI	10.1111/j.1600-0404.2011.01546.x
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Article ; Online: Increased functional capacity after 12 weeks of exercise training does not transform into improved skeletal muscle metabolism or ultrastructure in heart failure patients on modern optimal medical therapy.

Valborgland, Torstein / Isaksen, Kjetil / Yndestad, Arne / Lindal, Sigurd / Myreng, Kate / Scott Munk, Peter / Larsen, Alf Inge

European journal of preventive cardiology

2021 Volume 28, Issue 9, Page(s) e32–e37

Language	English
Publishing date	2021-02-10
Publishing country	England
Document type	Journal Article
ZDB-ID	2626011-6
ISSN	2047-4881 ; 2047-4873
ISSN (online)	2047-4881
ISSN	2047-4873
DOI	10.1177/2047487320919863
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Article: Mitochondria and neurodegenerative diseases--is there a link? The role of mitochondria in the pathogenesis of amyotrophic lateral sclerosis (ALS).

Lindal, Sigurd

Ultrastructural pathology

2002 Volume 26, Issue 1, Page(s) 1–2

MeSH term(s)	Amyotrophic Lateral Sclerosis/etiology ; Amyotrophic Lateral Sclerosis/metabolism ; Amyotrophic Lateral Sclerosis/pathology ; Humans ; Mitochondria, Muscle/metabolism ; Mitochondria, Muscle/ultrastructure ; Mitochondrial Myopathies/complications ; Mitochondrial Myopathies/metabolism ; Mitochondrial Myopathies/pathology
Language	English
Publishing date	2002-01
Publishing country	England
Document type	Comment ; Editorial ; Review
ZDB-ID	603269-2
ISSN	1521-0758 ; 0191-3123
ISSN (online)	1521-0758
ISSN	0191-3123
DOI	10.1080/01913120252934251
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Zs.A 1566: Show issues

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Article: A new congenital myopathy in a Norwegian family.

Aurivillius, M / Lindal, S

Acta paediatrica (Oslo, Norway : 1992)

2001 Volume 90, Issue 12, Page(s) 1478–1480

Abstract: Unlabelled: A 6-y-old boy presented with a mild, and apparently non-progressive, congenital myopathy, primarily affecting explosive movements such as running and jumping. Five other cases, spanning four generations, were identified in his family. A ... ...

Abstract	Unlabelled: A 6-y-old boy presented with a mild, and apparently non-progressive, congenital myopathy, primarily affecting explosive movements such as running and jumping. Five other cases, spanning four generations, were identified in his family. A dominant inheritance pattern was suggested. Quadriceps muscle histology showed a selective type II fibre atrophy, which is otherwise considered a non-specific change associated with a number of conditions. Conclusion: A Norwegian boy with an inherited muscle weakness is presented. Based on clinical and laboratory investigations, and in light of the inheritance pattern, a previously undescribed congenital myopathy is suggested.
MeSH term(s)	Child ; Humans ; Male ; Muscle, Skeletal/pathology ; Muscle, Skeletal/physiopathology ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/pathology ; Myopathies, Structural, Congenital/physiopathology ; Norway ; Pedigree
Language	English
Publishing date	2001-12
Publishing country	Norway
Document type	Case Reports ; Journal Article
ZDB-ID	203487-6
ISSN	1651-2227 ; 0803-5253 ; 0365-1436
ISSN (online)	1651-2227
ISSN	0803-5253 ; 0365-1436
DOI	10.1080/08035250152708923
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Article ; Online: Plasma tumour necrosis factor correlates with mRNA expression of tumour necrosis factor and mitochondrial transcription factors in skeletal muscle in patients with chronic heart failure treated with cardiac resynchronization therapy: potential role in myopathy.

Larsen, Alf I / Valborgland, Torstein / Ogne, Christer / Lindal, Sigurd / Halvorsen, Bente / Munk, Peter S / Kvaløy, Jan T / Aukrust, Pål / Yndestad, Arne

European journal of preventive cardiology

2019 Volume 27, Issue 19, Page(s) 2362–2366

MeSH term(s)	Aged ; Biomarkers/blood ; Bundle-Branch Block/metabolism ; Cardiac Resynchronization Therapy ; Chronic Disease ; Exercise Test ; Female ; Heart Failure/therapy ; Humans ; Male ; Middle Aged ; Mitochondria, Muscle/metabolism ; Muscle, Skeletal/metabolism ; RNA, Messenger/metabolism ; Transcription Factors/metabolism ; Tumor Necrosis Factor-alpha/blood
Chemical Substances	Biomarkers ; RNA, Messenger ; Transcription Factors ; Tumor Necrosis Factor-alpha
Language	English
Publishing date	2019-06-08
Publishing country	England
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	2626011-6
ISSN	2047-4881 ; 2047-4873
ISSN (online)	2047-4881
ISSN	2047-4873
DOI	10.1177/2047487319855796
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Article ; Online: Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation.

Alhamidi, Maisoon / Brox, Vigdis / Stensland, Eva / Liset, Merete / Lindal, Sigurd / Nilssen, Øivind

Neuromuscular disorders : NMD

2017 Volume 27, Issue 7, Page(s) 619–626

Abstract: Limb girdle muscular dystrophy type 2I (LGMD2I) is a progressive disorder caused by mutations in the FuKutin-Related Protein gene (FKRP). LGMD2I displays clinical heterogeneity with onset of severe symptoms in early childhood to mild calf and thigh ... ...

Abstract	Limb girdle muscular dystrophy type 2I (LGMD2I) is a progressive disorder caused by mutations in the FuKutin-Related Protein gene (FKRP). LGMD2I displays clinical heterogeneity with onset of severe symptoms in early childhood to mild calf and thigh hypertrophy in the second or third decade. Patients homozygous for the common FKRP mutation c.826C>A (p.Leu276Ile) show phenotypes within the milder end of the clinical spectrum. However, this group also manifests substantial clinical variability. FKRP deficiency causes hypoglycosylation of α-dystroglycan; a component of the dystrophin associated glycoprotein complex. α-Dystroglycan hypoglycosylation is associated with loss of interaction with laminin α2, which in turn results in laminin α2 depletion. Here, we have attempted to clarify if the clinical variability seen in patients homozygous for c.826C>A is related to alterations in muscle fibre pathology, α-DG glycosylation levels, levels of laminin α2 as well as the capacity of α-DG to bind to laminin. We have assessed vastus lateralis muscle biopsies from 25 LGMD2I patients harbouring the c.826C>A/c.826C>A genotype by histological examination, immunohistochemistry and immunoblotting. No clear correlation was found between clinical severity, as determined by self-reported walking function, and the above features, suggesting that more complex molecular processes are contributing to the progression of disease.
Language	English
Publishing date	2017-07
Publishing country	England
Document type	Journal Article
ZDB-ID	1077681-3
ISSN	1873-2364 ; 0960-8966
ISSN (online)	1873-2364
ISSN	0960-8966
DOI	10.1016/j.nmd.2017.02.015
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Zs.A 3258: Show issues

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Article ; Online: Good outcome in a patient treated for cerebral amyloid angiopathy presenting as an expansive process with inflammation and contrast enhancement.

Bekkelund, S I / Midtbu, C E / Arvola, L / Eldevik, O P / Lindal, S

AJNR. American journal of neuroradiology

2011 Volume 32, Issue 4, Page(s) E75

MeSH term(s)	Adrenal Cortex Hormones/therapeutic use ; Cerebral Amyloid Angiopathy/drug therapy ; Cerebral Amyloid Angiopathy/pathology ; Contrast Media ; Encephalitis/drug therapy ; Encephalitis/pathology ; Female ; Humans ; Magnetic Resonance Imaging/methods ; Middle Aged
Chemical Substances	Adrenal Cortex Hormones ; Contrast Media
Language	English
Publishing date	2011-03-17
Publishing country	United States
Document type	Case Reports ; Letter
ZDB-ID	603808-6
ISSN	1936-959X ; 0195-6108
ISSN (online)	1936-959X
ISSN	0195-6108
DOI	10.3174/ajnr.A2474
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Zs.A 1580: Show issues

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Article ; Online: Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.

Rasmussen, Magnhild / Scheie, David / Breivik, Noralv / Mork, Marit / Lindal, Sigurd

Acta paediatrica (Oslo, Norway : 1992)

2014 Volume 103, Issue 5, Page(s) 553–558

Abstract: Aim: To describe patients diagnosed with limb girdle muscular dystrophy 2I (LGMD2I) in our paediatric departments between 2004 and 2012.: Methods: The hospital charts of 17 patients presenting for evaluation at a mean age of 7.8 years (range 1-13 ... ...

Abstract	Aim: To describe patients diagnosed with limb girdle muscular dystrophy 2I (LGMD2I) in our paediatric departments between 2004 and 2012. Methods: The hospital charts of 17 patients presenting for evaluation at a mean age of 7.8 years (range 1-13 years) were retrospectively reviewed. Results: With one exception, all patients were homozygous for the common mutation c.826C>A in the FKRP gene. Three patients experienced transient pronounced weakness as toddlers. Fatigue and muscle pain were most prominent, weakness less so, in children presenting at an older age. The degree of severity varied substantially. In certain cases, increased creatine kinase was an incidental finding. All walked independently by 18 months. When last evaluated at a mean age of 14.3 years (range 3.5-18 years), five patients were part-time wheelchair users. One patient was then treated for a cardiomyopathy. Creatine kinase was consistently increased, except presymptomatic in one patient. Muscle biopsies showed focal acute and chronic myopathic changes and pathological expression of α-dystroglycan. No consistent relationship between clinical function and the degree of morphological pathology was found. Conclusion: LGMD2I is a relevant differential diagnosis when creatine kinase is increased in children presenting with fatigue, muscle pain and sometimes weakness.
MeSH term(s)	Adolescent ; Biomarkers/metabolism ; Biopsy ; Child ; Child, Preschool ; Creatine Kinase/metabolism ; Dystroglycans/metabolism ; Female ; Humans ; Infant ; Laminin/metabolism ; Male ; Muscle Fatigue ; Muscle Weakness ; Muscular Dystrophies, Limb-Girdle/metabolism ; Muscular Dystrophies, Limb-Girdle/pathology ; Muscular Dystrophies, Limb-Girdle/physiopathology ; Quadriceps Muscle/metabolism ; Quadriceps Muscle/pathology ; Retrospective Studies
Chemical Substances	Biomarkers ; DAG1 protein, human ; Laminin ; Dystroglycans (146888-27-9) ; Creatine Kinase (EC 2.7.3.2)
Language	English
Publishing date	2014-05
Publishing country	Norway
Document type	Evaluation Studies ; Journal Article
ZDB-ID	203487-6
ISSN	1651-2227 ; 0365-1436 ; 0803-5253
ISSN (online)	1651-2227
ISSN	0365-1436 ; 0803-5253
DOI	10.1111/apa.12561
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Article ; Online: Small and large fiber neuropathy in those with type 1 and type 2 diabetes: a 5-year follow-up study.

Løseth, Sissel / Stålberg, Erik V / Lindal, Sigurd / Olsen, Edel / Jorde, Rolf / Mellgren, Svein I

Journal of the peripheral nervous system : JPNS

2016 Volume 21, Issue 1, Page(s) 15–21

Abstract: The purpose of this study was to evaluate progression of diabetic polyneuropathy and differences in the spectrum and evolution of large- and small-fiber involvement in patients with diabetes type 1 and 2 over 5 years. Fifty-nine patients (35 type 1 and ... ...

Abstract	The purpose of this study was to evaluate progression of diabetic polyneuropathy and differences in the spectrum and evolution of large- and small-fiber involvement in patients with diabetes type 1 and 2 over 5 years. Fifty-nine patients (35 type 1 and 24 type 2) were included. Nerve conduction studies (NCS), quantitative sensory testing, skin biopsy for quantification of intraepidermal nerve fiber density (IENFD), symptom scoring and clinical evaluations were performed. Z-scores were calculated to adjust for the physiologic effects of age and height/gender. Neuropathic symptoms were not significantly more frequent in type 2 than in type 1 diabetic patients at follow-up (54% vs. 37%). The overall mean NCS Z-score remained within the normal range, but there was a small significant decline after 5 years in both groups: type 1 (p = 0.004) and type 2 (p = 0.02). Mean IENFD Z-scores changed from normal to abnormal in both groups, but only significantly in those with type 2 diabetes (reduction from 7.9 ± 4.8 to 4.3 ± 2.8 fibers/mm, p = 0.006). Cold perception threshold became more abnormal only in those with type 2 diabetes (p = 0.049). There was a minimal progression of large fiber neuropathy in both groups. Reduction of small fibers predominated and progressed more rapidly in those with type 2 diabetes.
MeSH term(s)	Diabetes Mellitus, Type 1/complications ; Diabetes Mellitus, Type 2/complications ; Diabetic Neuropathies/pathology ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Neural Conduction ; Sensory Thresholds
Language	English
Publishing date	2016-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	1364009-4
ISSN	1529-8027 ; 1085-9489
ISSN (online)	1529-8027
ISSN	1085-9489
DOI	10.1111/jns.12154
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