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MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.
Lessard LE, Bourque DK, Bourque PJ, Lochmüller H, Machado J, Del Gobbo GF, Marshall AE, Smith IC; Care4Rare Canada Consortium; Boycott KM, Warman-Chardon J, Breiner A. Lessard LE, et al. J Neuromuscul Dis. 2025 Nov 12:22143602251391068. doi: 10.1177/22143602251391068. Online ahead of print. J Neuromuscul Dis. 2025. PMID: 41222985 Free article.
The m.9035T > C variant has been reported in several families presenting with common phenotypic presentations of ATP6-related disorders such as maternally inherited Leigh syndrome (MILS) and the syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP). HSP is a r …
The m.9035T > C variant has been reported in several families presenting with common phenotypic presentations of ATP6-related disorders s …
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.
Ghosh S, Singh J, Damseh NS, Severino M, De Pace R, Golding AE, Jarnik M, Thakran P, Faivre L, Heitz J, Denommé-Pichon AS, Vitobello A, AlAbdi L, Abdulwahab F, Sumayli S, Alqahtani M, Cheema HA, Javed I, Kim J, Lochmuller H, Mor-Shaked H, Neil JE, Mochida GH, Zifarelli G, Bauer P, Barkhordari E, Ghayoor Karimiani E, Houlden H, Abu-Libdeh B, Edvardson S, Elpeleg O, Maroofian R, Patten SA, Bonifacino JS. Ghosh S, et al. Brain. 2025 Oct 7:awaf371. doi: 10.1093/brain/awaf371. Online ahead of print. Brain. 2025. PMID: 41058046
(Val140Asp)] in eight individuals from six unrelated families with a neurological disorder featuring a spectrum of global neurodevelopmental delay, microcephaly, ataxia, spasticity, delayed myelination, callosal hypoplasia, cerebellar atrophy, walking and speech impairment …
(Val140Asp)] in eight individuals from six unrelated families with a neurological disorder featuring a spectrum of global neurodevelopmental …
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.
Cuillerier A, Del Gobbo GF, Mackay L, Wall E, Couse M, McDonell LM, Cloutier M, Danzi MC, Warman-Chardon J, Bourque PR, Suchowersky O, Mears A, Seldenthuis L, Mears W, Larrigan L, White-Brown A, Pfeffer G, Bulman DE, Dyment D; Care4Rare Canada Consortium; Boycott KM. Cuillerier A, et al. Ann Clin Transl Neurol. 2025 Jun;12(6):1118-1125. doi: 10.1002/acn3.70016. Epub 2025 Apr 7. Ann Clin Transl Neurol. 2025. PMID: 40191983 Free PMC article.
We aimed to determine the proportion of our unsolved adult-onset ataxia cohort harboring this expansion using several technologies, and to characterize the phenotypic presentation within our population. METHODS: Individuals presenting with adult-onset ataxia (> 3 …
We aimed to determine the proportion of our unsolved adult-onset ataxia cohort harboring this expansion using several technologies, a …
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.
Falabella M, Pizzamiglio C, Tabara LC, Munro B, Abdel-Hamid MS, Sonmezler E, Macken WL, Lu S, Tilokani L, Flannery PJ, Patel N, Pope SAS, Heales SJR, Hammadi DBH, Alston CL, Taylor RW, Lochmuller H, Woodward CE, Labrum R, Vandrovcova J, Houlden H, Chronopoulou E, Pierre G, Maroofian R, Hanna MG, Taanman JW, Hiz S, Oktay Y, Zaki MS, Horvath R, Prudent J, Pitceathly RDS. Falabella M, et al. Brain. 2025 Feb 3;148(2):647-662. doi: 10.1093/brain/awae268. Brain. 2025. PMID: 39279645 Free PMC article.
All patients presented with a complex, neonatal/infantile onset neurological and neurodevelopmental syndrome comprising developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy a …
All patients presented with a complex, neonatal/infantile onset neurological and neurodevelopmental syndrome comprising developmental delay, …
Motor band sign in a Huntington disease phenocopy.
Dash D, Mestre TA. Dash D, et al. Parkinsonism Relat Disord. 2023 Apr;109:105333. doi: 10.1016/j.parkreldis.2023.105333. Epub 2023 Feb 20. Parkinsonism Relat Disord. 2023. PMID: 36854213
We report a 68-year-old lady who presented with Huntington phenocopy with generalized chorea and was genetically proven to have Spinocerebellar ataxia (SCA)17. MRI Brain demonstrated motor band sign, which is most commonly reported in motor neuron disease. ...
We report a 68-year-old lady who presented with Huntington phenocopy with generalized chorea and was genetically proven to have Spinocerebel …
Molecular pathophysiology of human MICU1 deficiency.
Kohlschmidt N, Elbracht M, Czech A, Häusler M, Phan V, Töpf A, Huang KT, Bartok A, Eggermann K, Zippel S, Eggermann T, Freier E, Groß C, Lochmüller H, Horvath R, Hajnóczky G, Weis J, Roos A. Kohlschmidt N, et al. Neuropathol Appl Neurobiol. 2021 Oct;47(6):840-855. doi: 10.1111/nan.12694. Epub 2021 Feb 22. Neuropathol Appl Neurobiol. 2021. PMID: 33428302
(Arg185*)) and an intragenic exon 2-deletion presenting with ataxia, developmental delay and early onset myopathy, clinodactyly, attention deficits, insomnia and impaired cognitive pain perception. ...
(Arg185*)) and an intragenic exon 2-deletion presenting with ataxia, developmental delay and early onset myopathy, clinodactyly, atte …
Dystonin loss-of-function leads to impaired autophagosome-endolysosome pathway dynamics.
Lynch-Godrei A, Repentigny Y, Ferrier A, Gagnon S, Kothary R. Lynch-Godrei A, et al. Biochem Cell Biol. 2021 Jun;99(3):364-373. doi: 10.1139/bcb-2020-0557. Epub 2020 Dec 21. Biochem Cell Biol. 2021. PMID: 33347391
Recessive Dst mutations lead to a sensory neuropathy in mice, known as dystonia musculorum (Dst(dt)). The disease is characterized by ataxia, autonomic disturbances, and ultimately, death, which are associated with massive degeneration of the sensory neurons in the dorsal …
Recessive Dst mutations lead to a sensory neuropathy in mice, known as dystonia musculorum (Dst(dt)). The disease is characterized by ata …
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.
McMacken G, Lochmüller H, Bansagi B, Pyle A, Lochmüller A, Chinnery PF, Laurie S, Beltran S, Matalonga L, Horvath R. McMacken G, et al. J Neurol. 2020 Dec;267(12):3643-3649. doi: 10.1007/s00415-020-10059-3. Epub 2020 Jul 12. J Neurol. 2020. PMID: 32656641 Free PMC article.
BACKGROUND: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular diagnosis is based on gene panel testing or whole-ex …
BACKGROUND: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spast …
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