Glycogen branching enzyme deficiency in adult polyglucosan body disease

Bruno, Claudio; Servidei, Serenella; Shanske, Sara; Karpati, George; Carpenter, Stirling; McKee, David; Barohn, Richard J.; Hirano, Michio; Rifai, Ziad; DiMauro, Salvatore

doi:10.1002/ana.410330114

Cited by 102 publications

(74 citation statements)

References 28 publications

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“…24 Wilson disease, disorders of amino acid metabolism, and cerebrotendinous xanthomatosis were excluded by biochemical results. 24 No accumulation suggesting polyglucosan body disease was observed on sural nerve biopsy, 29 and the adult form of ceroid lipofuscinosis does not fit well clinically because no lipopigment was observed in neurons at brain autopsy. 30 Lack of increase in serum lactate, pyruvate, and cerebrospinal lactate levels, absence of ragged-red and cytochrome c oxidase-negative fibers on muscle biopsy, lack of known point mutations (MELAS, MERRF, NARP), and mtDNA deletions in muscle biopsy specimen make mitochondrial diseases unlikely.…”

Section: Figure 2 (A) Mri Of Patient Iii-7 At Age 32 Coronal T2-weimentioning

confidence: 99%

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family

Rantamäki

Krahe²,

Paetau

et al. 2001

Neurology

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Article abstract-Objective: To describe an unusual kindred with adult-onset ataxia and thalamic lesions detected by brain MRI. Methods: The authors characterized clinical, laboratory, and pathologic features of the disease and sought linkage to previously recognized ataxia loci. Results: Two sisters and a brother developed progressive ataxia, dysarthria, mild cognitive impairment, and sensorimotor neuropathy at age 30, combined with epilepsy in one sibling. MRI showed symmetric thalamic lesions, changes in brainstem gray matter, and white matter changes in the cerebellum. Autopsy in one of the patients revealed neuronal degeneration with a peculiar vacuolar change in thalamus, probably representing transsynaptic degeneration in response to deafferentation. Neuronal and secondary tract degeneration was observed in the spinal cord, cerebellum, and brainstem suggesting a spinocerebellar degeneration. The disorder appears to be transmitted as an autosomal recessive trait. Genetic and sequence analysis of the FRDA gene and comprehensive laboratory examinations excluded Friedreich's ataxia and other similar recessive diseases. Conclusion: Adult-onset recessive ataxia with bilateral thalamic lesions in this family may represent a distinct hereditary spinocerebellar ataxia.

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Section: Figure 2 (A) Mri Of Patient Iii-7 At Age 32 Coronal T2-weimentioning

confidence: 99%

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family

Rantamäki

Krahe²,

Paetau

et al. 2001

Neurology

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“…7 Early diagnosis is critical for prompt and proper patient management to minimize organ damage and maximize the life span of the patient.…”

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confidence: 99%

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

Wang

Cui

Lee

et al. 2013

Genetics in Medicine

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“…La edad de inicio se sitúa en la quinta o sexta década de la vida y el curso puede variar entre 3 y 20 años. En la biopsia del nervio periférico se aprecian los depósitos de poliglucosanos 20,21 .…”

Section: Glucogenosis Hepáticasunclassified

“…La actividad de la fosforilasa b quinasa se encuentra disminuida en músculo pero en hígado y células sanguí-neas es normal. La biopsia muscular muestra una miopatía vacuolar con numerosos depósitos de glucógeno 20,22 .…”

Section: Glucogenosis Muscularesunclassified

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Enfermedades metabólicas de aparición en la edad adulta

Ribes

González

Cazorla

2008

Anales Sis San Navarra

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RESUMENLos errores congénitos del metabolismo (ECM) pueden debutar en la adolescencia y en la edad adulta. Aunque es difícil aportar datos exactos de prevalencia ya que existen escasos estudios al respecto, incluso considerándolos poco frecuentes, la importancia de su detección radica en las posibilidades terapéuticas y de consejo genético familiar.La principal sintomatología de los ECM del adulto es la neurológica, seguida de la hepática. Se puede establecer dos modos básicos de debut. Uno es el agudo, normalmente en forma de alteración del nivel de conciencia, letargia, coma de etiología desconocida en un paciente previamente sano (déficits del ciclo de la urea, trastornos de la remetilación de la homocisteína y porfirias son aquí las causas más frecuentes). Por otra parte está la sintomatología crónica, insidiosa, a menudo progresiva, en la que suele haber cuadros clínicos complejos, y más raramente un síntoma aislado de manera persistente (la enfermedad de Wilson, enfermedades mitocondriales, lisosomales, la enfermedad de Refsum y las glucogenosis son algunos ejemplos en este grupo).Es de especial importancia conocer las formas de debut agudo, que suelen ser situaciones de extrema urgencia, en las que una conducta adecuada puede evitar el fallecimiento del paciente. En este caso, exámenes sencillos de laboratorio como la determinación del amonio, homocisteína, lactato, acilcarnitinas, aminoácidos, ácidos orgánicos y porfirinas, pueden orientar el diagnóstico y permiten iniciar un tratamiento intensivo.En este capítulo se pretende realizar un enfoque práctico, abordando las características generales y claves clínicas de sospecha de los ECM más habituales en el adulto. Palabras clave. Errores congénitos del metabolismo. Edad adulta. Adolescencia ABSTRACTInborn errors of metabolism (IEM) can have their onset in adolescence or in adulthood. Although it is difficult to contribute exact data on prevalence -because there are few studies in this respect, and IEM are regarded as infrequent-their detection is important due to the possibilities for therapy and family genetic counselling.The main symptoms of IEM in the adult are neurological, followed by hepatic. Two basic modes of onset can be established. One is acute, normally taking the form of consciousness alteration, lethargy, coma of unknown etiology in a previously healthy patient (urea cycle deficits, homocysteine remethylation disorders and porphyries are the most frequent causes). The other is an insidious, often progressive, chronic symptomathology that can involve complex clinical features, and more rarely a symptom that is isolated in a persistent way (Wilson's disease, mitochondrial diseases, lysosomal storage disorders, Refsum's disease and glycogenosis are some examples of this group).It is especially important to determine the forms of acute onset as these can present situations of extreme emergency where appropriate conduct can prevent the death of the patient. In this case, simple laboratory examinations, such as determination of ammonia, homocystei...

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Glycogen branching enzyme deficiency in adult polyglucosan body disease

Cited by 102 publications

References 28 publications

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

Enfermedades metabólicas de aparición en la edad adulta

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