Progressive length‐dependent polyneuropathy in xeroderma pigmentosum group A

Tsuji, Yusuke; Ueda, Takahiro; Sekiguchi, Kenji; Nishiyama, Masahiro; Kanda, Fumio; Nishigori, Chikako; Toda, Tatsushi; Matsumoto, Riki

doi:10.1002/mus.27028

Cited by 6 publications

(6 citation statements)

References 46 publications

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“…Sensorimotor neuropathy has been reported in XP-A patients 15 though selectivity of XP-D neuropathies to the sensory nerve has not been previously described. In both XP-A and XP-D complementation groups, the peripheral neuropathy becomes evident within the rst or second decade and appears to progress slowly as shown by the gradual decline in sural sensory responses in the follow-up studies.…”

Section: Discussionmentioning

confidence: 90%

Differences in Peripheral Neuropathy in Xeroderma Pigmentosum Complementation Groups A and D

Lehky

Sackstein²,

Tamura

et al. 2021

Preprint

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BACKGROUNDXeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder with defective DNA nucleotide excision repair and associated with a high frequency of skin cancer. Approximately 25% of patients develop progressive neurological degeneration. Complementation groups XP-A and XP-D are most frequently associated with neurological disorders. METHODSThis is a retrospective review of patients with XP who were evaluated at NIH from 1986 to 2015 and had nerve conduction studies (NCS). Audiological, brain imaging, neuropsychological assessments were also performed on most of the patients. Limited neuropathology of XP-A and XP-D patients were compared. RESULTSThe 33 patients had NCS: XP-A (9 patients), XP-C (7 patients), XP-D (10 patients), XP-E (1 patient), XP-V (4 patients), and XP-unknown (2 patients). Peripheral neuropathy was documented only in two complementation groups: 78% (7/9) of XP-A patients had a sensorimotor neuropathy while 50% (5/10) of XP-D patients had a sensory neuropathy only. The severity of the neuropathy correlated with hearing loss. CONCLUSIONSDespite similar brain imaging and audiological findings patients, XP-A and XP-D complementation groups differ in the type of neuropathy, sensorimotor versus sensory alone. A few cases suggest that sensorineural hearing loss and absent deep tendon reflexes may precede abnormal NCS in XP and therefore serve as valuable clinical indicators of XP patients that will later develop peripheral neuropathy. TRIAL REGISTRATION: Patients were evaluated under clinical protocols, NCT00001813 and NCT00046189, approved by the NIH Institutional Review Boards.

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Section: Discussionmentioning

confidence: 90%

Differences in Peripheral Neuropathy in Xeroderma Pigmentosum Complementation Groups A and D

Lehky

Sackstein²,

Tamura

et al. 2021

Preprint

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“…4,9 In Japanese patients with XPA, motor and speech functions were reported to decline after the age of 6 years because of neurologic manifestations and lengthdependent polyneuropathy beginning in the first decade. 9,13 On the other hand, cases of XPA mild form, XPF, and XPG, in which neurologic symptoms develop in adulthood, have been reported. [6][7][8]12,14,15 In these cases of adult-onset neurologic symptoms, cerebellar ataxia, chorea, and cognitive dysfunction were the core symptoms and were accompanied by various combinations of hearing loss, neuropathy, and pyramidal tract signs.…”

Section: Discussionmentioning

confidence: 99%

Clinical Reasoning: A 60-Year-Old Man With Ataxia, Chorea, and Mild Cognitive Impairment

et al. 2022

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We describe the case of a 60-year-old man with a 16-year history of gait imbalance and 15-year history of forgetfulness. The insidious onset and slow progression suggested that the disease was degenerative. Neurologic examination revealed cerebellar ataxia, chorea, and mild cognitive impairment. Brain magnetic resonance imaging revealed prominent cerebellum atrophy and diffuse atrophy in the brainstem and cerebrum. Based on neurologic manifestations, an additional patient interview and skin examination were conducted. Photosensitivity and freckling in exposed areas, which the patient did not recognize as disease symptoms, were observed. Based on acute and chronic photosensitivity and DNA repair test results, a final diagnosis was made. In patients with cerebellar ataxia, chorea, and cognitive dysfunction of unknown etiology, clinicians should explore patient history of photosensitivity and carefully examine the skin.

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“…Though there were a limited number of patients in each group, our electrodiagnostic findings suggests that the peripheral nerve manifestations differ between these two complementation groups, with the XP-A patients having a sensorimotor neuropathy and XP-D patients having only a sensory neuropathy. Sensorimotor neuropathy has been reported in XP-A patients [ 17 , 18 ] as well as the associated loss of deep tendon reflexes [ 19 ] though selectivity of XP-D neuropathies to the sensory nerve has not been previously described. In both XP-A and XP-D complementation groups, the peripheral neuropathy becomes evident within the first or second decade and appears to progress slowly as shown by the gradual decline in sural sensory responses in the follow-up studies.…”

Section: Discussionmentioning

confidence: 99%

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies

et al. 2021

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Background Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder with defective DNA nucleotide excision repair and associated with a high frequency of skin cancer. Approximately 25% of patients develop progressive neurological degeneration. Complementation groups XP-A and XP-D are most frequently associated with neurological disorders. Design/methods This is a retrospective review of patients with XP who were evaluated at NIH from 1986 to 2015 and had nerve conduction studies (NCS). In the complementation groups with peripheral neuropathy, further comparisons of the NCS were made with audiological, brain imaging, neuropsychological assessments that were also performed on most of the patients. Limited neuropathology of XP-A and XP-D patients were examined.. Results The 33 patients had NCS: XP-A (9 patients), XP-C (7 patients), XP-D (10 patients), XP-E (1 patient), XP-V (4 patients), and XP-unknown (2 patients). Peripheral neuropathy based on nerve conduction studies was documented only in two complementation groups: 78% (7/9) of XP-A patients had a sensorimotor neuropathy while 50% (5/10) of XP-D patients had a sensory neuropathy only. Analysis of sural sensory nerve amplitude in both complementation groups XP-A and XP-D correlated with sensorineural hearing loss (SNHL), MRI/CT severity, and Full-scale Intelligence Quotient (IQ). Analysis of fibular motor nerve amplitude in complementation XP-A correlated with SNHL and MRI/CT severity. Limited follow-up studies showed gradual loss of NCS responses compared to an earlier and more rapid progression of the hearing loss. Conclusions Despite similar brain imaging and audiological findings patients, XP-A and XP-D complementation groups differ in the type of neuropathy, sensorimotor versus sensory alone. A few cases suggest that sensorineural hearing loss may precede abnormal NCS in XP and therefore serve as valuable clinical indicators of XP patients that will later develop peripheral neuropathy.

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Progressive length‐dependent polyneuropathy in xeroderma pigmentosum group A

Cited by 6 publications

References 46 publications

Differences in Peripheral Neuropathy in Xeroderma Pigmentosum Complementation Groups A and D

Differences in Peripheral Neuropathy in Xeroderma Pigmentosum Complementation Groups A and D

Clinical Reasoning: A 60-Year-Old Man With Ataxia, Chorea, and Mild Cognitive Impairment

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies

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