Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient

Ersen, Atilla; Gençpınar, Pınar; Arıcan, Pınar; Yılmaz, Sema Bozkaya; Aliyeva, Nargiz; Özdemir, Taha Reşi̇d; Öztekin, Özgür; Dündar, Nihal Olgaç

doi:10.1097/wnf.0000000000000392

Cited by 3 publications

(3 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Alecu et al 42 described an 18-year-old patient with CAPN1 missense mutation (SPG76) who presented with psychiatric symptoms followed by spastic gait, intention tremor, and neurogenic bladder dysfunction. Ersen et al 43 reported a case of a SPG15 patient with topiramate-responsive tremor. There are rarely described cases of orthostatic tremor associated with SPG, one of them with improvement after the use of levodopa.…”

Section: Movement Disorders In Spgmentioning

confidence: 99%

See 1 more Smart Citation

Movement disorders in hereditary spastic paraplegias

Pedroso,

Vale,

Freitas

et al. 2023

Arq Neuropsiquiatr

View full text Add to dashboard Cite

Background Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. The complicated forms evolve with other various neurological signs and symptoms, including movement disorders and ataxia. Objective To summarize the clinical descriptions of SPG that manifest with movement disorders or ataxias to assist the clinician in the task of diagnosing these diseases. Methods We conducted a narrative review of the literature, including case reports, case series, review articles and observational studies published in English until December 2022. Results Juvenile or early-onset parkinsonism with variable levodopa-responsiveness have been reported, mainly in SPG7 and SPG11. Dystonia can be observed in patients with SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 and SPG76. Tremor is not a frequent finding in patients with SPG, but it is described in different types of SPG, including SPG7, SPG9, SPG11, SPG15, and SPG76. Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and neuropathy). SPG4, SPG6, SPG10, SPG27, SPG30 and SPG31 may rarely present with ataxia with cerebellar atrophy. And autosomal recessive SPG such as SPG7 and SPG11 can also present with ataxia. Conclusion Patients with SPG may present with different forms of movement disorders such as parkinsonism, dystonia, tremor, myoclonus and ataxia. The specific movement disorder in the clinical manifestation of a patient with SPG may be a clinical clue for the diagnosis.

show abstract

Section: Movement Disorders In Spgmentioning

confidence: 99%

“… 44 45 In summary, there are reports that patients with SPG may present with tremors, including postural, task-specific resting, or kinetic tremors. 43 46 47 48 Descriptions regarding the treatment of these patients with SPG and tremors are scarce.…”

Section: Movement Disorders In Spgmentioning

confidence: 99%

Movement disorders in hereditary spastic paraplegias

Pedroso,

Vale,

Freitas

et al. 2023

Arq Neuropsiquiatr

View full text Add to dashboard Cite

show abstract

“…SPG15 is a rare cause of cHSP that clinically can present with varied phenotypes with different combinations of cerebellar ataxia, pyramidal signs, macular dystrophy (Kjellin syndrome), cognitive impairment, tremor, levodopa responsive juvenile parkinsonism, oculomotor abnormalities, peripheral neuropathy and distal amyotrophy. [3][4][5][6] Learning difficulty, intellectual disability and progressive cognitive impairment are frequent in SPG15. 6 Here we report two brothers with genetically confirmed SPG15, one of them presenting with predominant spasticity and lower limb weakness, while the other with predominant ataxia with some spasticity.…”

mentioning

confidence: 99%