Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

Koens, Lisette H; Kuiper, Anouk; Coenen, Maraike A; Elting, Jan Willem J.; Vries, Jeroen J de; Engelen, Marc; Koelman, Johannes H. T. M.; Spronsen, F. J. van; Spikman, Joke; Koning, Tom J. de; Tijssen, Marina A. J.

doi:10.1186/s13023-016-0502-3

Cited by 31 publications

(44 citation statements)

References 25 publications

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“…NPC is a very heterogeneous disorder both with regards to age of onset and clinical manifestations. Ataxia is a recognized manifestation, particularly in adult cases, and was also common in our cohort. Dystonia was found in 4/5 of our pediatric and adolescent patients and was thus more frequent compared to previously published cohorts of older adolescent and adult patients .…”

Section: Discussionmentioning

confidence: 58%

The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases

Ebrahimi‐Fakhari

Hildebrandt

Davis

et al. 2018

Movement Disord Clin Pract

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Section: Discussionmentioning

confidence: 58%

The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases

Ebrahimi‐Fakhari

Hildebrandt

Davis

et al. 2018

Movement Disord Clin Pract

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“…Hepatosplenomegaly and/or gelastic cataplexy are less frequent or missed by the lack of an appropriate examination in patients with an adult onset. Other neurological manifestations (VSGP, cerebellar ataxia, dystonia, and dysarthria/dysphagia) are more frequent (11), in our patients even a key clinical sign of NP-C, the VSGP, only became apparent later in the disease course or was not correctly recognized early in the disease course. Systematic studies illustrate the broad spectrum of initial symptoms in adolescent- or adult-onset NP-C cases: in a report on five cases where disease onset was between 5 and 50 years of age, ataxia and myoclonus appeared to be the most frequent neurologic symptoms, while VSGP was lacking in two patients.…”

mentioning

confidence: 50%

“…Koens and coauthors described movement disorders as primary symptom in three-quarters of patients, mainly myoclonus (including negative myoclonus) and ataxia. Psychosis was less frequent, while cognitive deficits appeared early in the course of the disease in every second patient of the cohort (11). …”

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confidence: 99%

Adult-Onset Niemann–Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult

Piroth¹,

Boelmans

Amtage³

et al. 2017

Front. Neurol.

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Niemann–Pick type C disease (NP-C) presents with heterogeneous neurological and psychiatric symptoms. Adult onset is rare and possibly underdiagnosed due to frequent lack of specific and obvious key symptoms. For both early and adolescent/adult onset, the available data from studies and case reports describe a positive effect of Miglustat (symptom relief or stabilization). However, due to the low frequency of NP-C, experience with this therapy is still limited. We describe two adult-onset cases of NP-C. In both cases, vertical supranuclear gaze palsy was not recognized at symptom onset. Correct diagnosis was delayed from onset of symptoms by more than 10 years. The video demonstrates the broad spectrum of symptoms in later stages of the disease. Compared with published data, the treatment outcome observed in our cases after delayed initiation of Miglustat therapy was disappointing, with continuing disease progression in both cases. Thus, early treatment initiation could be necessary to achieve a good symptomatic effect. Hence, early biochemical testing for NP-C should be considered in patients suffering from atypical neurological/neuropsychological and psychiatric symptoms, even in cases of uncertainty.

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“…Movement disorders are common across the spectrum of NPC and sometimes a presenting symptom, particularly in adult patients . The classic movement disorder is that of cerebellar ataxia with prominent involvement of the trunk and limbs, which is present in >70% of patients . Hence, NPC should be considered in all patients with onset of ataxia before the age of 40 years and particularly when present in combination with abnormal vertical saccades, cognitive decline, or neuropsychiatric symptoms .…”

Section: The “Top Ten” Of Treatable Iems Presenting With Movement Dismentioning

confidence: 99%

Movement Disorders in Treatable Inborn Errors of Metabolism

Ebrahimi‐Fakhari

Karnebeek²,

Münchau

2018

Movement Disorders

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There are several hundred single‐gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non‐neurological and neurological manifestations, commonly with onset during childhood. Movement disorders are among the most common neurological problems in inborn errors of metabolism, but, in many cases, remain poorly defined. Although movement disorders are usually not the only and often not the presenting symptom, their recognition can facilitate a diagnosis. Movement disorders contribute substantially to the morbidity in inborn errors of metabolism and can have a significant impact on quality of life. Common metabolic movement disorders include the monoamine neurotransmitter disorders, disorders of amino and organic acid metabolism, metal storage disorders, lysosomal storage disorders, congenital disorders of autophagy, disorders of creatine metabolism, vitamin‐responsive disorders, and disorders of energy metabolism. Importantly, disease‐modifying therapies exist for a number of inborn errors of metabolism, and early recognition and treatment can prevent irreversible CNS damage and reduce morbidity and mortality. A phenomenology‐based approach, based on the predominant movement disorder, can facilitate a differential diagnosis and can guide biochemical, molecular, and imaging testing. The complexity of metabolic movement disorders demands an interdisciplinary approach and close collaboration of pediatric neurologists, neurologists, geneticists, and experts in metabolism. In this review, we develop a general framework for a phenomenology‐based approach to movement disorders in inborn errors of metabolism and discuss an approach to identifying the “top ten” of treatable inborn errors of metabolism that present with movement disorders—diagnoses that should never be missed. © 2018 International Parkinson and Movement Disorder Society

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Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

Cited by 31 publications

References 25 publications

The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases

The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases

Adult-Onset Niemann–Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult

Movement Disorders in Treatable Inborn Errors of Metabolism

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