Chediak‐Higashi syndrome with parkinsonism

Silveira‐Moriyama, Laura; Moriyama, Tais; Gabbi, Tatiana Villas Boas; Ranvaud, Ronald; Barbosa, Egberto Reis

doi:10.1002/mds.10677

Cited by 20 publications

(17 citation statements)

References 13 publications

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“…Based on our experiences, and the available literature [8,9,26], patients with this pattern of CHS might benefit, at least in the short term, from L-dopa, selegiline, trihexylphenidyl, biperiden, or amantadine. At diagnosis, patients require multidisciplinary input from a neurologist with expertise in movement disorders, as well as a clinical immunologist (even if historical clues suggesting immunodeficiency are absent), an ophthalmologist, a neurophysiologist, and a neuroradiologist.…”

Section: Discussionmentioning

confidence: 89%

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

Weisfeld-Adams

Mehta

Rucker

et al. 2013

Orphanet J Rare Dis

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BackgroundMutations in LYST, a gene encoding a putative lysosomal trafficking protein, cause Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder typically characterized by infantile-onset hemophagocytic syndrome and immunodeficiency, and oculocutaneous albinism. A small number of reports of rare, attenuated forms of CHS exist, with affected individuals exhibiting progressive neurodegenerative disease beginning in early adulthood with cognitive decline, parkinsonism, features of spinocerebellar degeneration, and peripheral neuropathy, as well as subtle pigmentary abnormalities and subclinical or absent immune dysfunction.MethodsIn a consanguineous Pakistani kindred with clinical phenotypes consistent with attenuated CHS, we performed SNP array-based homozygosity mapping and whole gene sequencing of LYST.ResultsWe identified three individuals homozygous for a novel six base pair in-frame deletion in LYST (c.9827_9832ATACAA), predicting the loss of asparagine and threonine residues from the LYST transcript (p.Asn3276_Thr3277del), and segregating with the phenotype in this family.ConclusionsWe further characterize the neurologic features of the attenuated form of CHS, and discuss pathophysiologic mechanisms underlying the neurodegenerative components of CHS. Attenuated CHS is phenotypically heterogenous and should be considered when young adults develop neurodegenerative disease and have pigmentary abnormalities. We briefly discuss surveillance and management of patients with CHS-related neurodegeneration.

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Section: Discussionmentioning

confidence: 89%

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

Weisfeld-Adams

Mehta

Rucker

et al. 2013

Orphanet J Rare Dis

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“…Neuere Beschreibungen eines Parkinson-Syndroms im Rahmen des CHS weisen auf eine L-Dopa-Responsivität hin [12,14,22,26], passend zu einer reduzierten Dopamintransporter-Liganden-Bindung im FP-CIT-SPECT bei einem Patienten [14]. Histologisch konnten Sung et al [27] übergroße, irregulär verklumpte melaninhaltige Granula in Zellen der Substantia nigra eines CHS-Patienten nachweisen.…”

Section: Chs Und Nervensystemunclassified

“…Bei einem Teil der adulten CHS-Patienten zeigten CT-und MRT-Aufnahmen eine ausgeprägte Hirnatrophie, teilweise generalisierter Natur [19], teilweise fokal betont im Bereich der Temporallappen einschließlich der Hippokampusregion oder zerebellär [26,29]. Spinale MRT-Aufnahmen, die bisher bei drei berichteten adulten CHS-Patienten angefertigt wurden, machten in zwei Fäl-len eine Atrophie des Rückenmarks deutlich [2,29].…”

Section: Chs Und Nervensystemunclassified

“…Spinale MRT-Aufnahmen, die bisher bei drei berichteten adulten CHS-Patienten angefertigt wurden, machten in zwei Fäl-len eine Atrophie des Rückenmarks deutlich [2,29]. Bis auf eine leichte Eiweißer-höhung waren Liquoruntersuchungen bei neurologisch auffälligen adulten CHS-Patienten ohne pathologischen Befund [22,24,26,29]. …”

Section: Chs Und Nervensystemunclassified

“…So berichteten Fukuda et al [9] von einer Verbesserung einer vorwiegend axonalen Polyneuropathie nach oraler Prednisolon-Therapie. Mehrere Autoren berichteten von einer L-Dopa-Responsivität eines Parkinson-Syndroms im Rahmen des CHS [12,22,26], was mit dem SPECT-Befund einer reduzierten Dopamintransporter-LigandenBindung verständlich wird [14].…”

Section: Therapie Des Chsunclassified

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Das Chediak-Higashi-Syndrom

et al. 2006

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Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, high bleeding tendency, and various neurological symptoms. Onset in early childhood mostly leads to lymphohistiocytic infiltration into multiple organs, which is usually lethal without bone marrow transplantation. The adult form of CHS has a milder course, no lymphohistiocytic infiltration, and is characterized by neurological manifestations such as polyneuropathy, parkinsonism, dementia, and ataxia. In young adults, a combination of these defects with oculocutaneous albinism or recurrent infections should bring CHS into consideration. Diagnosis is established by the presence of characteristic eosinophilic peroxidase-positive giant granules in leukocytes. This article summarizes current knowledge about the pathogenesis, clinical course, and therapy of CHS and reports on experience with two adult CHS patients.

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Parkinsonism and Other Movement Disorders Associated with Chediak‐Higashi Syndrome: Case Report and Systematic Literature Review

Balint

Bhatia

2015

Movement Disord Clin Pract

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Chediak‐Higashi syndrome with parkinsonism

Cited by 20 publications

References 13 publications

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

Das Chediak-Higashi-Syndrom

Parkinsonism and Other Movement Disorders Associated with Chediak‐Higashi Syndrome: Case Report and Systematic Literature Review

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