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Article
Novel splice site CACNA1A mutation causing episodic ataxia type 2
Episodic ataxia type 2 (EA-2) is an autosomal dominant neurological disorder, characterized by episodes of ataxia, vertigo, nausea, nystagmus, and fatigue, associated with acetazolamide responsiveness. The dis...
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Article
Erratum to: Axial myopathy — an unrecognised entity
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Article
Axial myopathy – an unrecognised entity
Axial myopathy (AM) is a rare neuromuscular disorder characterised by selective involvement of the spinal muscles with a bent spine and/or droo** head as leading clinical features. We here report the result...
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Article
MRI of the brain in muscle-eye-brain (MEB) disease
Muscle-eye-brain (MEB) disease belongs to the spectrum of rare congenital syndromes with migration disorders of the brain and muscular dystrophy, along with the Walker-Warburg syndrome and Fukuyama congenital ...
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Chapter
Polymerization of Gelsolin Variant Fragment in Tissue Causes Familial Amyloidosis, Finnish Type (FAF)
Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of systemic amyloidosis with progressive cranial neuropathy and lattice corneal dystrophy as principal clinical manifestations. We have s...
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Chapter
Familial Amyloidosis, Finnish Type
Familial amyloidosis, Finnish type (FAF), previously also known as FAP IV is an autosomal dominant disorder with extracellular deposition of amyloid in several tissues. Neurological examination revealed periph...
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Chapter
Biochemical indicators of ischaemic brain damage
Laboratory methods such as lactate and pyruvate measurements and various serum enzyme tests have been in routine clinical use to reveal acute ischaemic injury of the heart or the skeletal muscle. The same enzy...