Hallervorden spatz disease: MR and pathological findings of a rare case

Sharma, Mukut; Aggarwal, Nishant; Bihari, M; Goyal, Vinay; Gaikwed, S.; Vaishya, Sandeep; Sarkar, Chitra

doi:10.4103/0028-3886.15072

Cited by 28 publications

(2 citation statements)

References 9 publications

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“…There are several case reports of dystonia due to PKAN treated with GPi-DBS, with most documenting a good response (127)(128)(129)(130)(131), although with one instance of no benefit (132). It is notable that genetic testing was not always performed in these cases, making it difficult to be sure of the genotype specific outcome.…”

Section: Nbia/dyt-pank2mentioning

confidence: 99%

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Tisch

Kumar

2021

Front. Neurol.

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Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention for medically refractory segmental and generalized dystonia in both children and adults. Predictive factors for the degree of improvement after GPi DBS include shorter disease duration and dystonia subtype with idiopathic isolated dystonia usually responding better than acquired combined dystonias. Other factors contributing to variability in outcome may include body distribution, pattern of dystonia and DBS related factors such as lead placement and stimulation parameters. The responsiveness to DBS appears to vary between different monogenic forms of dystonia, with some improving more than others. The first observation in this regard was reports of superior DBS outcomes in DYT-TOR1A (DYT1) dystonia, although other studies have found no difference. Recently a subgroup with young onset DYT-TOR1A, more rapid progression and secondary worsening after effective GPi DBS, has been described. Myoclonus dystonia due to DYT-SCGE (DYT11) usually responds well to GPi DBS. Good outcomes following GPi DBS have also been documented in X-linked dystonia Parkinsonism (DYT3). In contrast, poorer, more variable DBS outcomes have been reported in DYT-THAP1 (DYT6) including a recent larger series. The outcome of GPi DBS in other monogenic isolated and combined dystonias including DYT-GNAL (DYT25), DYT-KMT2B (DYT28), DYT-ATP1A3 (DYT12), and DYT-ANO3 (DYT24) have been reported with varying results in smaller numbers of patients. In this article the available evidence for long term GPi DBS outcome between different genetic dystonias is reviewed to reappraise popular perceptions of expected outcomes and revisit whether genetic diagnosis may assist in predicting DBS outcome.

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Section: Nbia/dyt-pank2mentioning

confidence: 99%

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Tisch

Kumar

2021

Front. Neurol.

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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: 77%

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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Indian‐subcontinent NBIA: Unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms

et al. 2010

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Neurodegeneration with brain iron accumulation (NBIA) is etiologically, clinically, and by imaging a heterogeneous group including NBIA types 1 [pantothenate kinase-associated neurodegeneration (PKAN)] and 2 (PLA2G6-associated neurodegeneration), neuroferritinopathy, and aceruloplasminaemia. Data on genetically defined Indian-subcontinent NBIA cases are limited. We report 6 patients from the Indian-subcontinent with a movement disorder and MRI basal ganglia iron deposition, compatible with diagnosis of an NBIA syndrome. All patients were screened for abnormalities in serum ceruloplasmin and ferritin levels and mutations in NBIA-associated genes [pantothenate kinase 2 (PANK2), PLA2G6 and ferritin light chain (exon 4)]. We present clinical, imaging and genetic data correlating phenotype-genotype relations. Four patients carried PANK2 mutations, two of these were novel. The clinical phenotype was mainly dystonic with generalized dystonia and marked orobulbar features in the 4 adolescent-onset cases. One of the four had a late-onset (age 37) unilateral jerky postural tremor. His mutation, c.1379C>T, appears associated with a milder phenotype. Interestingly, he developed the eye-of-the-tiger sign only 10 years after onset. Two of the six presented with adult-onset levodopa (L-dopa)-responsive asymmetric re-emergent rest tremor, developing L-dopa-induced dyskinesias, and good benefit to deep brain stimulation (in one), thus resembling Parkinson's disease (PD). Both had an eye-of-the-tiger sign on MRI but were negative for known NBIA-associated genes, suggesting the existence of further genetic or sporadic forms of NBIA syndromes. In conclusion, genetically determined NBIA cases from the Indian subcontinent suggest presence of unusual phenotypes of PANK2 and novel mutations. The phenotype of NBIA of unknown cause includes a PD-like presentation.

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Hallervorden spatz disease: MR and pathological findings of a rare case

Cited by 28 publications

References 9 publications

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

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

Indian‐subcontinent NBIA: Unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms

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