Complex tics, stereotypies, and compulsive behavior as clinical presentation of a juvenile progressive dystonia suggestive of hallervorden‐spatz disease

Nardocci, Nardo; Rumi, V.; Combi, M. L.; Angelini, Lucia; Mirabile, D.; Bruzzone, Maria Grazia

doi:10.1002/mds.870090322

Cited by 31 publications

(15 citation statements)

References 7 publications

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“…In our series, no patients had hemiballism, and 1 patient (Family 2) had lingual dystonia, very similar to that seen in neuroacanthocytosis (see Video, Segment 2). Rarely, patients with NBIA exhibit tics, attention deficit disorder, seizures, myoclonus, and optic atrophy 17–19. Some patients have had lower motor neuron involvement in addition to spasticity, hyperreflexia, and bulbar paralysis 20.…”

Section: Discussionmentioning

confidence: 99%

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden‐Spatz syndrome) and pantothenate kinase‐associated neurodegeneration

2004

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Abstract:Hallervorden Spatz syndrome (HSS), also referred to as neurodegeneration with brain iron accumulation (NBIA), is a rare inherited neurodegenerative disorder with childhood, adolescent, or adult onset. Patients with HSS/NBIA have a combination of motor symptoms in the form of dystonia, parkinsonism, choreoathetosis, corticospinal tract involvement, optic atrophy, pigmentary retinopathy, and cognitive impairment. After the recent identification of mutations in the PANK2 gene on chromosome 20p12.3-p13 in some patients with the HSS/NBIA phenotype, the term pantothenate kinase-associated neurodegeneration (PKAN) has been proposed for this group of disorders. To characterize clinically and genetically HSS/ NBIA, we reviewed 34 affected individuals from 10 different families, who satisfied the inclusion criteria for NBIA. Relatives of patients who had clinical, magnetic resonance imaging (MRI), or pathological findings of NBIA were included in the study. Four patients were found to have mutations in the pantothenate kinase 2 (PANK2) gene. We compared the clinical features and MRI findings of those with and without PANK2 mutations. The presence of mutation in the PANK2 gene is associated with younger age at onset and a higher frequency of dystonia, dysarthria, intellectual impairment, and gait disturbance. Parkinsonism is seen predominantly in adult-onset patients whereas dystonia seems more frequent in the earlieronset cases. The phenotypic heterogeneity observed in our patients supports the notion of genetic heterogeneity in the HSS/NBIA syndrome.

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Section: Discussionmentioning

confidence: 99%

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden‐Spatz syndrome) and pantothenate kinase‐associated neurodegeneration

2004

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“…The term tourettism has been used to describe TS‐like symptoms secondary to some specific cause 2. Besides TS, tics have been reported secondary to numerous causes such as infection, head trauma, medication use, and in association with other neurodegenerative disorders 3–13. Tourettism secondary to cerebral infarction have been described previously in only three patients 14–16.…”

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confidence: 99%

Tourettism and dystonia after subcortical stroke

Kwak

Jankovic

2002

Movement Disorders

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The term "tourettism" has been used to describe Tourette syndrome (TS)-like symptoms secondary to some specific cause. Tics associated with attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or both, are commonly present in TS, but this constellation of symptoms has been rarely attributed to stroke. We describe two boys who suffered a subcortical stroke and subsequently developed hemidystonia, tics, and behavioral comorbidities. Both had right hemispheric stroke involving the basal ganglia at 8 years of age, and in both the latency from the stroke to the onset of left hemidystonia was 2 weeks. In addition to ADHD and OCD, both exhibited cranial-cervical motor tics but no phonic tics. The temporal relationship between the stroke and subsequent TS-like symptoms, as well as the absence of phonic tics and family history of TS symptoms in our patients, argues in favor of a cause and effect relationship, and the observed association provides evidence for an anatomic substrate for TS and related symptoms.

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“…Affected individuals predominantly suffer from progressive extra-pyramidal dysfunction, demonstrated by dystonia, rigidity and choreoathetosis as well as optic atrophy and retinal degeneration 3, 9 . The additional progressive clinical manifestations include dysarthria, intellectual impairment, psychiatric problems, spasticity, and others as have been described elsewhere 3, 7, 9, 10, 13, 16 . Autopsy findings of the afflicted brain regions depict areas of non-heme iron accumulation, presence of axonal swellings or spheroids and loss of neurons 17–20 .…”

Section: Introductionmentioning

confidence: 78%

A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India

Angural

Singh

Mahajan

et al. 2017

Sci Rep

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Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized by symptoms of extra-pyramidal dysfunction and accumulation of non-heme iron predominantly in the basal ganglia of the brain. In this study, we describe a familial case of PKAN from the State of Jammu and Kashmir (J&K), India based on the clinical findings and genetic screening of two affected siblings born to consanguineous normal parents. The patients present with early-onset, progressive extrapyramidal dysfunction, and brain Magnetic Resonance imaging (MRI) suggestive of symmetrical iron deposition in the globus pallidi. Screening the PANK2 gene in the patients as well as their unaffected family members revealed a functional single nucleotide variation, perfectly segregating in the patient’s family in an autosomal recessive mode of inheritance. We also provide the results of in-silico analyses, predicting the functional consequence of the identified PANK2 variant.

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Complex tics, stereotypies, and compulsive behavior as clinical presentation of a juvenile progressive dystonia suggestive of hallervorden‐spatz disease

Cited by 31 publications

References 7 publications

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden‐Spatz syndrome) and pantothenate kinase‐associated neurodegeneration

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden‐Spatz syndrome) and pantothenate kinase‐associated neurodegeneration

Tourettism and dystonia after subcortical stroke

A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India

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