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Peer-reviewedCC BY-NC-NDCerebellum (London, England)

Parkinsonism with Reduced Striatal Uptake on DAT-SPECT in a Patient Harboring a Novel KCND3 Variant.

  • Kimitaka Katanazaka1
  • Mariko Takata2
  • China Kanai3
  • Sayaka Matsumoto4
  • Kento Matoba4
  • Mayumi Otani4
  • Shusuke Koto4
  • Kenji Sekiguchi4
  • Yuji Takahashi5
  • Hidehiro Mizusawa5
  • Norio Chihara4
5 affiliations
  1. 1Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Hyogo, 650- 0017, Japan. [email protected].
  2. 2Department of Neurology, Kitaharima Medical Center, Ono, Hyogo, 675-1392, Japan.
  3. 3Faculty of Medicine, Kobe University, Kobe, Hyogo, 650-0017, Japan.
  4. 4Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Hyogo, 650- 0017, Japan.
  5. 5Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, 187-8502, Japan.
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Abstract

KCND3 encodes the voltage-gated potassium channel Kv4.3, and pathogenic variants in KCND3 are associated with spinocerebellar ataxia type 19/22 (SCA19/22) and related neurological phenotypes. Here, we report a Japanese patient harboring a novel KCND3 missense variant, classified as a variant of uncertain significance, who presented with a clinical phenotype compatible with SCA19/22, including slowly progressive cerebellar ataxia beginning in childhood, accompanied by asymmetric parkinsonism. Dopamine transporter single-photon emission computed tomography demonstrated reduced striatal uptake. Parkinsonian symptoms exhibited a partial response to dopaminergic therapy; however, the improvement was primarily based on clinical observation, with limited objective evidence supporting treatment efficacy. To our knowledge, abnormal dopamine transporter imaging has not been previously reported in patients with SCA19/22-related phenotypes. Although it was difficult to determine whether the parkinsonism was attributable to the KCND3 variant or to coexisting Lewy body disease, we reviewed the literature on parkinsonism associated with SCA19/22 and discussed the potential contributions of both pathologies in the present case.

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Cite

BibTeXRIS
BibTeX
@article{katanazaka2026parkinsonism,
  title = {{Parkinsonism with Reduced Striatal Uptake on DAT-SPECT in a Patient Harboring a Novel KCND3 Variant.}},
  author = {Kimitaka Katanazaka and Mariko Takata and China Kanai and Sayaka Matsumoto and Kento Matoba and Mayumi Otani and Shusuke Koto and Kenji Sekiguchi and Yuji Takahashi and Hidehiro Mizusawa and Norio Chihara},
  journal = {Cerebellum (London, England)},
  year = {2026},
  month = oct,
  doi = {10.1007/s12311-026-02092-1},
  url = {https://europepmc.org/article/MED/42842081},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Parkinsonism with Reduced Striatal Uptake on DAT-SPECT in a Patient Harboring a Novel KCND3 Variant.
AU  - Kimitaka Katanazaka
AU  - Mariko Takata
AU  - China Kanai
AU  - Sayaka Matsumoto
AU  - Kento Matoba
AU  - Mayumi Otani
AU  - Shusuke Koto
AU  - Kenji Sekiguchi
AU  - Yuji Takahashi
AU  - Hidehiro Mizusawa
AU  - Norio Chihara
PY  - 2026
DA  - 2026/10/07
JO  - Cerebellum (London, England)
DO  - 10.1007/s12311-026-02092-1
UR  - https://europepmc.org/article/MED/42842081
AB  - KCND3 encodes the voltage-gated potassium channel Kv4.3, and pathogenic variants in KCND3 are associated with spinocerebellar ataxia type 19/22 (SCA19/22) and related neurological phenotypes. Here, we report a Japanese patient harboring a novel KCND3 missense variant, classified as a variant of uncertain significance, who presented with a clinical phenotype compatible with SCA19/22, including slowly progressive cerebellar ataxia beginning in childhood, accompanied by asymmetric parkinsonism. Dopamine transporter single-photon emission computed tomography demonstrated reduced striatal uptake. Parkinsonian symptoms exhibited a partial response to dopaminergic therapy; however, the improvement was primarily based on clinical observation, with limited objective evidence supporting treatment efficacy. To our knowledge, abnormal dopamine transporter imaging has not been previously reported in patients with SCA19/22-related phenotypes. Although it was difficult to determine whether the parkinsonism was attributable to the KCND3 variant or to coexisting Lewy body disease, we reviewed the literature on parkinsonism associated with SCA19/22 and discussed the potential contributions of both pathologies in the present case.
SN  - 1473-4222
SN  - 1473-4230
ER  -