Neuroleptic malignant syndrome in Kufs' disease

Reif, Andreas; Schneider, M.; Høyer, Andreas; Schneider‐Gold, Christiane; Fallgatter, AJ; Roggendorf, Wolfgang; Pfuhlmann, Bruno

doi:10.1136/jnnp.74.3.385

Cited by 19 publications

(13 citation statements)

References 12 publications

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“…Neuropsychiatric disturbance in adolescent or adult-onset cases is very common (Berkovic et al 1988;Goebel and Braak 1989). ANCL presents with psychosis in up to 20 % of patients, with ages of onset between 13 and 41 (Augustine et al 1993; Callagy et al 2000;Charles et al 1990;Gospe and Jankovic 1986;Hinkebein and Callahan 1997;Lewandowska et al 2009;Reif et al 2003;Tobo et al 1984;Waldman 1992), with psychotic symptoms also described in juvenile patients (Vercammen et al 2003). Backman et al, in a series of juvenile NCL patients (mean age 15 years), described five adolescent patients with psychotic symptoms warranting psychotropic medication, although affective symptoms (predominantly depression) were more common (Backman et al 2005).…”

Section: Neuronal Ceroid Lipofuscinosismentioning

confidence: 99%

“…Nijssen et al described a pedigree with an autosomal dominant inheritance where three of six affected family members presented with psychosis (Nijssen et al 2009). Characteristic psychotic symptoms appear to be auditory hallucinations, delusions and thought disorder (Callagy et al 2000), although occasionally catatonic motor changes can present (Reif et al 2003). In older patients, ANCL may also present with a frontotemporal dementia-like picture (Zini et al 2008), or with the hyperorality and sexual disinhibition characteristic of Kluver-Bucy syndrome (Alonso-Navarro et al 2005).…”

Section: Neuronal Ceroid Lipofuscinosismentioning

confidence: 99%

“…Sensitivity to the motor side effects of neuroleptic medication complicates the treatment of ACNL psychosis, with an increased propensity towards EPSE including dystonia (Gospe and Jankovic 1986;Hinkebein and Callahan 1997) and neuroleptic malignant syndrome (Reif et al 2003;Vercammen et al 2003). This sensitivity has been attributed to a combination of subcortical neuropathology and muscle membrane pathology (Reif et al 2003).…”

Section: Neuronal Ceroid Lipofuscinosismentioning

confidence: 99%

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The neuropsychiatry of inborn errors of metabolism

Walterfang

Bonnot

Mocellin

et al. 2013

J of Inher Metab Disea

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A number of metabolic disorders that affect the central nervous system can present in childhood, adolescence or adulthood as a phenocopy of a major psychiatric syndrome such as psychosis, depression, anxiety or mania. An understanding and awareness of secondary syndromes in metabolic disorders is of great importance as it can lead to the early diagnosis of such disorders. Many of these metabolic disorders are progressive and may have illness-modifying treatments available. Earlier diagnosis may prevent or delay damage to the central nervous system and allow for the institution of appropriate treatment and family and genetic counselling. Metabolic disorders appear to result in neuropsychiatric illness either through disruption of late neurodevelopmental processes (metachromatic leukodystrophy, adrenoleukodystrophy, GM2 gangliosidosis, Niemann-Pick type C, cerebrotendinous xanthomatosis, neuronal ceroid lipofuscinosis, and alpha mannosidosis) or via chronic or acute disruption of excitatory/inhibitory or monoaminergic neurotransmitter systems (acute intermittent porphyria, maple syrup urine disease, urea cycle disorders, phenylketonuria and disorders of homocysteine metabolism). In this manuscript we review the evidence for neuropsychiatric illness in major metabolic disorders and discuss the possible models for how these disorders result in psychiatric symptoms. Treatment considerations are discussed, including treatment resistance, the increased propensity for side-effects and the possibility of some treatments worsening the underlying disorder.

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Section: Neuronal Ceroid Lipofuscinosismentioning

confidence: 99%

Section: Neuronal Ceroid Lipofuscinosismentioning

confidence: 99%

Section: Neuronal Ceroid Lipofuscinosismentioning

confidence: 99%

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The neuropsychiatry of inborn errors of metabolism

Walterfang

Bonnot

Mocellin

et al. 2013

J of Inher Metab Disea

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“…29,30 In 10 of these 31 cases, detailed review with further investigation established definitive alternate diagnoses (table 3). The main reason for misdiagnosis as ANCL was overinterpretation of normal age-related lipopigment as pathologic storage material (figure).…”

Section: Resultsmentioning

confidence: 99%

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Berkovic

Staropoli

Carpenter³

et al. 2016

Neurology

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Objective: To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery.Methods: Through establishment of an international consortium we pooled 47 unsolved cases regarded by referring centers as ANCL. Clinical and neuropathologic experts within the Consortium established diagnostic criteria for ANCL based on the literature to assess each case. A panel of 3 neuropathologists independently reviewed source pathologic data. Cases were given a final clinicopathologic classification of definite ANCL, probable ANCL, possible ANCL, or not ANCL.

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“…[149][150][151] The association of psychosis with dementia is common, 147,149,152 and a propensity toward neuroleptic malignant syndrome has been reported. 153,154 Tremor Psychosis is absent in disorders that include tremor as a predominant or frequent clinical manifestation in the absence of other signs of parkinsonism.…”

Section: Myoclonusmentioning

confidence: 99%

Nosology and Phenomenology of Psychosis in Movement Disorders

Rossi

Farcy

Starkstein

et al. 2020

Movement Disord Clin Pract

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Background Background: Psychotic symptoms, such as delusions and hallucinations, are part of the clinical picture of several conditions presenting movement disorders. Phenomenology and epidemiology of psychosis in Parkinson's disease have received wide attention; however, the presence of psychosis in other movement disorders is, comparatively, less well known. Objectives Objectives: To review psychotic symptoms present in different movement disorders. Methods Methods: A comprehensive and structured literature search was performed to identify and analyze data on patients with movement disorders and comorbid psychosis.

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Neuroleptic malignant syndrome in Kufs' disease

Cited by 19 publications

References 12 publications

The neuropsychiatry of inborn errors of metabolism

The neuropsychiatry of inborn errors of metabolism

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Nosology and Phenomenology of Psychosis in Movement Disorders

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