Advertisement

Topics

Novel crystalloid oligodendrogliopathy in hereditary spastic paraplegia.

Summary of "Novel crystalloid oligodendrogliopathy in hereditary spastic paraplegia."

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders associated with spastic paraparesis (pure HSP) with or without additional neurological symptoms (complicated HSP). Here we present a case of an adult-onset, apparently autosomal-dominant, complicated form of HSP. Onset of clinical symptoms was at the age 40 years and characterised by slowly progressive corticospinal tract dysfunction, dysarthria, disorientation, extrapyramidal symptoms, and bilateral ptosis. Cranial MRI revealed hyperintensities on T2-weighted sequences mostly in the posterior limb of the internal capsule. The proband deceased at the age of 64 years. As morphological substrate for the slowly progressive clinical symptoms, comprehensive neuropathological and ultrastructural evaluation revealed a novel oligodendrogliopathy with distinctive, partly ubiquitinated and p62 positive fibrillar inclusions evolving into crystalloid deposits, containing elements of the oligodendroglial cytoskeleton (α- and β-tubulin, TPPP/p25). In the central nervous system, accumulation of crystalloid structures has been related to histiocytes but not to glial cells. This study has implications for the understanding on how the human central nervous system reacts to protracted dysfunction and disruption of the oligodendroglial cytoskeleton, including development of crystalloid structures, which have not yet been reported in neurodegenerative diseases including HSP.

Affiliation

Institute of Neurology, Medical University of Vienna, Waehringer Guertel 18-20, 1097, Vienna, Austria.

Journal Details

This article was published in the following journal.

Name: Acta neuropathologica
ISSN: 1432-0533
Pages:

Links

DeepDyve research library

PubMed Articles [531 Associated PubMed Articles listed on BioPortfolio]

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

SPG7 is one of the most common forms of autosomal recessive hereditary spastic paraplegia. The phenotype has been shown to be heterogeneous, varying from a complex spastic ataxia to pure spastic parap...

Microarray analysis unmasked two siblings with pure hereditary spastic paraplegia shared a run of homozygosity region on chromosome 3q28-q29.

Hereditary spastic paraplegia (HSP) is a clinical and genetic heterogeneity group of neurodegenerative disorders which is characterized by progressive weakness and spasticity of the lower limbs. More ...

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.

Hereditary spastic paraplegia (HSP) is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity of the legs. SPG11 is the most common autoso...

Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.

The hereditary spastic paraplegias (HSPs) comprise a group of genetically heterogeneous neurodegenerative diseases. Here, we evaluated the spectrum and frequency of mutations in the CYP7B1, PNPLA6 and...

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous disease characterized by spasticity and weakness of the lower limbs with or without additional neurological symptoms. ...

Clinical Trials [283 Associated Clinical Trials listed on BioPortfolio]

Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia

Hereditary spastic paraplegias constitute a heterogeneous group of diseases with the common predominant feature of spasticity of the lower limbs. The clinical picture is composed of diffic...

Cortical Plasticity in Spastic Diplegia After Selective Dorsal Rhizotomy

The purpose of this study is to characterize the cortical connectivity changes in the brain of spastic diplegic children after Selective Dorsal Rhizotomy.

Phase II Randomized Study of Selective Dorsal Rhizotomy and Physiotherapy Vs Physiotherapy Alone for Spastic Diplegia

OBJECTIVES: I. Assess the efficacy and safety of selective dorsal rhizotomy and physiotherapy compared with physiotherapy alone in improving gross motor function and reducing spasticity ...

A Comparison of Crystalloid Alone Versus Crystalloid Plus Colloid in Shock Resuscitation

Fluid resuscitation is the most effective treatment of shock. Isotonic crystalloid solution is the current recommended initial fluid resuscitation. However, this kind of fluid has high vol...

The Dallas Hereditary Spherocytosis Cohort Study

The purpose of this study is to 1. better characterize the short term and long term natural history of hereditary spherocytosis (HS) including diagnosis, complications, and indicat...

Medical and Biotech [MESH] Definitions

A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)

A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)

An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.

A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)

Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.

Quick Search
Advertisement
 


DeepDyve research library

Relevant Topics

Urology
Benign Prostatic Hyperplasia (BPH) Erectile Dysfunction Urology Urology is the branch of medicine concerned with the urinary tract and diseases that affect it. Examples include urethritis, urethrostenosis and incontinence. Urology is a su...

Alzheimer's Disease
Of all the types of Dementia, Alzheimer's disease is the most common, affecting around 465,000 people in the UK. Neurons in the brain die, becuase  'plaques' and 'tangles' (mis-folded proteins) form in the brain. People with Al...

Radiology
Radiology is the branch of medicine that studies imaging of the body; X-ray (basic, angiography, barium swallows), ultrasound, MRI, CT and PET. These imaging techniques can be used to diagnose, but also to treat a range of conditions, by allowing visuali...


Searches Linking to this Article