Clinical characteristics and diagnostic clues to Neurometabolic causes of dystonia

Phua, Chun Seng; Kumar, Kishore R.; Levy, Stanley H.

doi:10.1016/j.jns.2020.117167

Cited by 7 publications

(3 citation statements)

References 104 publications

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“…GM1 gangliosidosis is one several neurometabolic causes of dystonia (141). A patient with GM1 type 3 gangliosidosis was reported was reported to have a significant functional benefit but no change to disease progression with bilateral GPi-DBS (142).…”

Section: Other Genetic Causes Of Dystoniamentioning

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: Other Genetic Causes Of Dystoniamentioning

confidence: 99%

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

Tisch

Kumar

2021

Front. Neurol.

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“…6 Thus far, lysosomal storage disorders have been reported to cause combined dystonia, which has been particularly recognized in cases of Niemann-Pick type C, GM1, and GM2 gangliosidosis, fucosidosis and adult non-neuropathic Gaucher's disease. 7 The identification of mutations in HOPS-associated genes as well as in WDR45, ATP13A2, VAC14, IRF2PBL, and SQSTM1-all of which encode proteins of the endolysosomal and autophagy pathway, causing a predominant dystonic phenotype-further establishes the growing link between lysosomal dysfunction and dystonia. 6 It remains to be seen in how far lysosomal dysfunction can be identified as a contributing or even causative factor, not only in selected hereditary and combined, but also in sporadic and isolated dystonia in the future.…”

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HOPS‐Associated Neurological Disorders: Lysosomal Dysfunction as an Emerging Concept Underlying Dystonia

Schreglmann

Bhatia

2022

Movement Disord Clin Pract

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“…Pediatric patients have a predominance of seizures, hepatopathy, and lactic acidaemia, whereas patients developing symptoms in adulthood are more frequently affected by myopathy, sensory ataxia, and chronic progressive external ophthalmoplegia [ 2 ]. POLG mutations are also known to be implicated in one of many mitochondrial diseases associated with disorders of movement [ 3 , 4 ].…”

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confidence: 99%

Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present

Qiu¹,

Kumar²,

Watson³

et al. 2021

JMD

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The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLG mutations. We report a case of a 30-year-old male presenting with lower limb dystonia with peripheral neuropathy and demonstrate that the dystonia was levodopa responsive (with video findings). Whole-genome sequencing revealed biallelic variants in the POLG gene: a known pathogenic variant [NM_001126131.2:c.2209G>C (p.Gly737Arg)] and a novel likely pathogenic variant [NM_001126131.2:c.3305A>C (p.Gln1102Pro)]. A genetic diagnosis was made before the appearance of more readily recognizable features of mitochondrial disease, allowing us to avoid invasive tissue biopsies or potentially deleterious treatments, such as sodium valproate. A POLG -related disorder should be suspected in cases of dystonia with peripheral neuropathy, and this diagnosis may have implications for further investigations and management.

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Clinical characteristics and diagnostic clues to Neurometabolic causes of dystonia

Cited by 7 publications

References 104 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

HOPS‐Associated Neurological Disorders: Lysosomal Dysfunction as an Emerging Concept Underlying Dystonia

Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present

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