関: dentatorubral-pallidoluysian atrophy、progressive myoclonus epilepsy

WordNet

gradually advancing in extent
a tense of verbs used in describing action that is on-going (同)progressive tense, imperfect, imperfect tense, continuous tense
favoring or promoting reform (often by government action) (同)reformist, reform-minded
(of a card game or a dance) involving a series of sections for which the participants successively change place or relative position; "progressive euchre"; "progressive tournaments"
(of taxes) adjusted so that the rate increases as the amount of income increases
advancing in severity; "progressive paralysis"
favoring or promoting progress; "progressive schools"
a disorder of the central nervous system characterized by loss of consciousness and convulsions

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(行列などが)『前進する』,進んで行く / (事態が)進展する,進行する / 『進歩的な』,革新的な / (病気・暴力などが)次第に悪くなる(広がる) / (課税が)累進的な / (文法で)進行[形]の / 進歩的な人,革新主義者
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/03 20:20:30」(JST)

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Progressive myoclonus epilepsy (PME) is a rare epilepsy syndrome caused by a variety of genetic disorders. The syndrome includes myoclonic seizures and tonic-clonic seizures together with progressive neurological decline.

1 Signs and symptoms
2 Differential diagnosis
3 Specific disorders
- 3.1 Unverricht-Lundborg disease
- 3.2 Myoclonus epilepsy and ragged red fibres (MERRF syndrome)
- 3.3 Lafora body disease
- 3.4 Neuronal ceroid lipofuscinoses
- 3.5 Type I sialidosis
4 Epidemiology
5 See also
6 External links
7 References

Signs and symptoms

Myoclonic seizures involve brief involuntary muscle twitching, and may become frequent enough to be disabling. Tonic-clonic seizures have two phases: the tonic phase may last a few seconds and involves the muscles tensing, and may lead to the person falling down; the clonic phase involves a convulsion of rapidly alternating muscle tensing and relaxing. Neurological dysfunction includes difficulty coordinating muscle movements (ataxia) and a decline in cognitive ability (dementia).

Differential diagnosis

In the early stages, it can be difficult to distinguish progressive myoclonic epilepsy from benign idiopathic generalised epilepsies, such as juvenile myoclonic epilepsy. With PME, the initial effectiveness of anticonvulsant treatment diminishes as seizures become more frequent and neurological decline progresses. However, these can also be signs of anticonvulsant intoxication. The myoclonus in PME is usually severe and is the prominent seizure type.

Specific disorders

Six specific disorders comprise the most common causes of progressive myoclonic epilepsy: Unverricht-Lundborg disease (Baltic myclonus); myoclonus epilepsy and ragged red fibres (MERRF syndrome); Lafora disease; neuronal ceroid lipofuscinoses; and type I sialidosis. Less common causes include dentatorubropallidoluysian atrophy (DRPLA); the noninfantile neuronopathic form of Gaucher disease; and atypical inclusion body disease. PME has also been reported in Niemann-Pick disease type C.

Unverricht-Lundborg disease

This disease manifests between six and sixteen years and is most prevalent in Scandinavia and the Baltic countries. Myoclonus gradually becomes worse and less susceptible to medication. Cognitive decline is slow and sometimes mild. Patients typically do not live beyond middle-age, but there are exceptions. Phenytoin, an old and commonly used anticonvulsant, is known to seriously exacerbate the condition. It has autosomal recessive inheritance, and is caused by a mutation in the cystatin B (EPM1) gene on chromosome 21q22.3, which was discovered in 1996.

It has been described as the least severe type of PME.^[2]

Myoclonus epilepsy and ragged red fibres (MERRF syndrome)

Onset of this disease may be at any time and the severity and progression are varied. Tonic-clonic seizures and dementia are less apparent than with other forms of PME. The cause is a mitochondrial DNA mutation, so most familial cases are transmitted from the mother. A skeletal muscle biopsy will show ragged red fibres, hence the name.

Lafora body disease

This disease typically begins between six and nineteen years after apparently normal development and generally results in death within ten years. It is characterised by the presence of Lafora bodies (polyglucosan inclusions) in neurons and other body tissue. The generalized seizures are usually well controlled by anticonvulsants, but the myoclonus soon proves refractory to treatment. Within a couple of years, a wheelchair is required for locomotion and within five to ten years, the person is confined to bed and is often tube fed. Valproic acid and zonisamide are first choice anticonvulsants, and the ketogenic diet may be helpful. An autosomal-recessive genetic defect is responsible, which has been tracked down to two genes. The EPM2A gene on chromosome 6q24 was discovered in 1998 and encodes for the protein laforin. It is responsible for 80% of cases. The EPM2B gene on chromosome 6p22.3 was discovered in 2003 and encodes for the protein malin. There may be a third gene of unknown locus.

Neuronal ceroid lipofuscinoses

There are various forms of these disorders, each with their own genetic cause and geographical variation, which lead to accumulation of lipopigments (lipofuscin) in the body's tissues and are inherited in an autosomal-recessive fashion. Onset and symptoms vary with the particular form, but death usually occurs within five to fifteen years.

Type I sialidosis

This is an autosomal recessive disorder in which the body is deficient in α-neuraminidase.

Epidemiology

PME accounts for less than 1% of epilepsy cases at specialist centres.^{[citation needed]} The incidence and prevalence of PME is unknown, but there are considerable geography and ethnic variations amongst the specific genetic disorders. One cause, Unverricht Lundborg Disease, has an incidence of at least 1:20,000 in Finland.^[3]

External links

GeneReview/NCBI/NIH/UW entry on Progressive Myoclonus Epilepsy with Ataxia

References

^ Berg AT, Berkovic SF, Brodie MJ et al. (April 2010). "Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009". Epilepsia 51 (4): 676–85. doi:10.1111/j.1528-1167.2010.02522.x. PMID 20196795.
^ Genton P (2006). "[Unverricht-Lundborg disease (PME1)]". Rev. Neurol. (Paris) (in French) 162 (8–9): 819–26. PMID 17028542.
^ "Unverricht-Lundborg Disease". Retrieved 2008-01-26.

UpToDate Contents

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1. 症候性（二次性）ミオクローヌス symptomatic secondary myoclonus
2. ミオクローヌスの分類および評価 classification and evaluation of myoclonus
3. 小児における運動過多な運動障害 hyperkinetic movement disorders in children
4. 若年性ミオクローヌスてんかん juvenile myoclonic epilepsy
5. 遺伝性運動失調の概要 overview of the hereditary ataxias

English Journal

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.

Hallmann K1, Zsurka G1, Moskau-Hartmann S1, Kirschner J1, Korinthenberg R1, Ruppert AK1, Ozdemir O1, Weber Y1, Becker F1, Lerche H1, Elger CE1, Thiele H1, Nürnberg P1, Sander T1, Kunz WS2.
Neurology.Neurology.2014 Dec 2;83(23):2183-7. doi: 10.1212/WNL.0000000000001055. Epub 2014 Oct 31.
OBJECTIVE: We report a consanguineous family with 2 affected individuals whose clinical symptoms closely resembled MERRF (myoclonus epilepsy with ragged red fibers) syndrome including severe myoclonic epilepsy, progressive spastic tetraparesis, progressive impairment of vision and hearing, as well a
PMID 25361775

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

Dyment DA1, Sell E, Vanstone MR, Smith AC, Garandeau D, Garcia V, Carpentier S, Le Trionnaire E, Sabourdy F, Beaulieu CL, Schwartzentruber JA, McMillan HJ; FORGE Canada Consortium, Majewski J, Bulman DE, Levade T, Boycott KM.
Clinical genetics.Clin Genet.2014 Dec;86(6):558-63. doi: 10.1111/cge.12307. Epub 2013 Nov 21.
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a recently delineated, autosomal recessive condition caused by rare mutations in the N-acylsphingosine amidohydrolase 1 (acid ceramidase) ASAH1 gene. It is characterized by motor neuron disease followed by progressive myoclonic
PMID 24164096

Epilepsy in children with menkes disease: a systematic review of literature.

Verrotti A1, Carelli A2, Coppola G3.
Journal of child neurology.J Child Neurol.2014 Dec;29(12):1757-64. doi: 10.1177/0883073814541469. Epub 2014 Jul 17.
Menkes disease is a lethal multisystemic disorder of copper metabolism characterized by connective tissue abnormalities, progressive neurodegeneration and peculiar "kinky hair." Epilepsy is one of the main clinical features of this disease but it has been described in detail by only a few authors. M
PMID 25038123

Japanese Journal

A French experience of type 3 Gaucher disease : Phenotypic diversity and neurological outcome of 10 patients

KRAOUA Ichraf,SEDEL Frederic,CAILLAUD Catherine,FROISSART Roseline,STIRNEMANN Jerome,CHAURAND Guy,FLODROPS Hugues,TARI Saliha,GOURFINKEL-AN Isabelle,MATHIEU Sophie,BELMATOUG Nadia,DE VILLEMEUR Thierry Billette,MIGNOT Cyril
Brain & development 33(2), 131-139, 2011-02-01
NAID 10029560545